Vesico-ureteral reflux and visual disorders

I am not a physician. I am a person, a daughter, a parent, and a librarian interested in various issues related to Vesico-ureteral Reflux (VUR). As a parent, my young daughter has been diagnosed with VUR (grade 2) which caused a temporary flurry of literature research at my house. Having some background in biology (yes, only a bachelor’s) I sort of got interested in the genetics of the issue even though it wasn’t relevant, necessarily, to my daughter’s treatment. I noted my mother, who had died a couple of months before at the age of nearly 80, had many visual problems as well as the nonfunctioning kidney implying she was may have been the genetic source (through me) of my daughter’s VUR. VUR can be primary or secondary to other conditions. As a primary condition, VUR is probably an autosomal dominant genetic disorder with variable expression but may be multifactorial.

My mother had been born legally blind and some 2 month premature in 1920. She had nystagmus, strabismus, severe myopia, astigmatism, and at the age of 33 had to have one of her eyes remove due to unresolvable glaucoma (technology may have changed since then.) She also had adult onset (in her 60’s) hydrocephalus, relatively early hypertension (in her 40’s), a couple of heart attacks and strokes, and died of congestive heart failure. We had assumed that her problems were related to her prematurity. Early hypertension and severe myopia tends to run in my immediate family of which I am one of 7 children. When doing the literature search on VUR I noted some syndromes associated with the ocular system but not related to myopia. Being a chatty kind of person at a university, I met quite a few people who’s first degree relatives have been diagnosed with VUR. It intrigued me that there seemed to be in those families a high level of myopia. Of course, one is not surprised to find myopic people at a university but there just seemed to be significant levels of early, severe myopia in these families. For example, my myopia is such that I can not find my glasses without my glasses on. I have not been able to see the large letter on the eye chart since I was 10 years old. My older daughter, not the one with the diagnosed VUR, has not been able to see that large letter since she was 8. Several of my siblings are quite myopic also. The idea of being able to walk around without corrective lenses is totally beyond my comprehension even though I know people who do, including my spouse.

During my literature review, I found nothing relating to myopia and VUR, although there is a relationship between the development of the optic and renal systems in embryogenesis. I sent an email to my youngest daughter’s urologist asking him if he knew of any studies relating to myopia and VUR. He did a search also and found nothing. He asked an optometrist friend and the friend stated that there are many conditions that could result in these visual problems. I still feel, noting my unscientific sample of VUR and vision problems among colleagues, that there is something more. I am not surprised that an urologist, a pediatrician, and an ophthalmologist would not note this as a possible correlation. Children are screened for nearsightedness at school and at wellness checkups. Teachers will refer children to the school nurse for a screening also. Children noted as potentially needing glasses will go to an optometrist and be treated there. Only if there are severe problems will an ophthalmologist get involved. Once a child has been prescribed glasses, wellness checks are screening with glasses and pediatricians do not know noncorrected severity. Urologists usually do not have any vision data. There is no person who would have data on level of myopia and knowledge of VUR. Since myopia is quite prevalent in the US, there is no reason to associate the wearing of glasses with VUR. But, for some reason, I simply think this might be something to examine. Discussing a possible way to gather perform the research with a colleague (an air experiment at the time,) it would not be impossible if one had a population of VUR patients. Solicit vision history from VUR patients *193000 VESICOURETERAL REFLUX; VUR. Online Mendelian Inheritance in Man. National Center for Biotechnology Information. http://www3.ncbi.nlm.nih.gov/Omim/ (if you do a search, try Vesicoureteral reflux without a hyphen)

TITLE: Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

AUTHORS: Schimmenti LA; Shim HH; Wirtschafter JD; Panzarino VA; Kashtan CE; Kirkpatrick SJ; Wargowski DS; France TD; Michel E; Dobyns WB

AUTHOR AFFILIATION: Departments of Human Genetics and Pediatrics, University of California, Los Angeles 90095-7088, USA. lschimmenti@mednet.ucla.edu

SOURCE: Hum Mutat 1999;14(5):369-76

CITATION IDS: PMID: 10533062 UI: 20004536

ABSTRACT: Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G) missense mutations. The mother and daughter have optic nerve colobomas and the daughter has vesicoureteral reflux. The severely affected girl developed renal failure and has bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari 1 malformation. We examined genomic DNA from these individuals by SSCP and sequencing. The mother and daughter had a novel mutation: a contraction in a string of 7 G's to 6 G's in one allele of PAX2, leading to a premature stop codon two amino acids downstream. The severely affected girl had an expansion to 8 G's, leading to a premature stop codon 27 amino acids downstream. The 8 G expansion has been found in other patients without brain anomalies and has occurred spontaneously in a mouse model, PAX2(1Neu). We expand the known phenotype associated with mutations in PAX2 to include brain malformations. The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes. Copyright 1999 Wiley-Liss, Inc.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics

Arnold-Chiari Malformation/*genetics; Coloboma/*genetics; DNA-Binding Proteins/*genetics; Kidney/*abnormalities; *Mutation; Transcription Factors/*genetics

ADDITIONAL MESH HEADINGS: Adult; Amino Acid Sequence; Animal; Base Sequence; Case Report; Child, Preschool; DNA Primers/genetics; Female; Genes, Dominant; Human; Male; Mice; Mutation, Missense; Pedigree; Phenotype; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.; Syndrome; 1999/10; 1999/26 09:00

PUBLICATION TYPES: JOURNAL ARTICLE

CAS REGISTRY NUMBERS: 0 (DNA Primers); 0 (DNA-Binding Proteins); 0 (Pax-2 protein); 0 (Transcription Factors)

LANGUAGES: Eng

GRANT/CONTRACT ID: DK 07087/DK/NIDDK

TITLE: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux [published erratum appears in Nat Genet 1996 May;13(1):129]

AUTHORS: Sanyanusin P; Schimmenti LA; McNoe LA; Ward TA; Pierpont ME; Sullivan MJ; Dobyns WB; Eccles MR

AUTHOR AFFILIATION: Department of Biochemistry, University of Otago, Dunedin, New Zealand.

SOURCE: Nat Genet 1995 Apr;9(4):358-64

CITATION IDS: PMID: 7795640 UI: 95315985

ABSTRACT: Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. We report a single nucleotide deletion in exon five, causing a frame-shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; Coloboma/*genetics; *Frameshift Mutation; Kidney/*abnormalities; Optic Nerve/*abnormalities; Vesico-Ureteral Reflux/*genetics

ADDITIONAL MESH HEADINGS: Adolescence; Adult; Animal; Base Sequence; Case Report; Child; Chromosome Mapping; DNA/genetics; DNA-Binding Proteins/genetics; Exons; Female; Genes, Dominant; Human; Male; Mice; Mice, Mutant Strains; Molecular Sequence Data; Pedigree; Support, Non-U.S. Gov't; Transcription Factors/genetics; 1995/04; 1995/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

CAS REGISTRY NUMBERS: 0 (DNA-Binding Proteins); 0 (Pax-2 protein); 0 (Transcription Factors); 9007-49-2 (DNA)

LANGUAGES: Eng

GENE SYMBOL: PAX2

SECONDARY SOURCE ID: GENBANK/U45245; GENBANK/U45246; GENBANK/U45247; GENBANK/U45248; GENBANK/U45249; GENBANK/U45250; GENBANK/U45251; GENBANK/U45252; GENBANK/U45253; GENBANK/U45254; GENBANK/U45255

TITLE: Submucosal injection of polyvinyl alcohol foam in rabbit bladder.

AUTHORS: Merguerian PA; McLorie GA; Khoury AE; Thorner P; Churchill BM

AUTHOR AFFILIATION: Division of Urology, Hospital for Sick Children, Toronto, Ontario, Canada.

SOURCE: J Urol 1990 Aug;144(2 Pt 2):531-3; discussion 545

CITATION IDS: PMID: 2197438 UI: 90325393

ABSTRACT: Submucosal injection of either polytetrafluoroethylene (Teflon) or collagen has been used in the treatment of vesicoureteral reflux. Although the methods and principles of this treatment are effective, there are concerns regarding the safety and long-term effectiveness of these substances. We present a pilot study to explore the potential of an alternate substance (polyvinyl alcohol foam) for this treatment. Polyvinyl alcohol foam (Ivalon) particles measuring 150 to 250 mu. were injected submucosally into the bladder of New Zealand white rabbits. The bladder was examined macroscopically and microscopically at 1 and 2 weeks, and 1, 2 and 3 months after the injection. The particles created a raised lesion under the mucosa that was visible to the naked eye as late as 3 months after the submucosal injection. The particles remained in a submucosal location after 3 months. At 1 week after injection there was a foreign body giant cell response to the particles. At 3 months the giant cell response persisted and the particles were surrounded by a fibrotic reaction. There was little inflammatory response otherwise. These preliminary results indicate that polyvinyl alcohol foam may be suitable for subureteral injection in the treatment of vesicoureteral reflux.

MAIN MESH HEADINGS: *Bladder; Polyvinyls/*administration & dosage

ADDITIONAL MESH HEADINGS: Animal; Bladder/drug effects; Bladder/pathology; Foreign-Body Reaction/pathology; Injections; Mucous Membrane/pathology; Polyvinyls/toxicity; Rabbits; 1990/08; 1990/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

CAS REGISTRY NUMBERS: 0 (ivalon sponge); 0 (Polyvinyls)

LANGUAGES: Eng

TITLE: Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes.

AUTHORS: Copeland KC; Hansen K; Moore CM

SOURCE: Am J Med Genet 1985 Apr;20(4):607-12

CITATION IDS: PMID: 3887915 UI: 85196248

ABSTRACT: We report on a mentally retarded boy with hypogonadotropic hypogonadism. He also had a hypoplastic right kidney and right vesicoureteral reflux, blunted calyses of the left kidney, spina bifida occulta, stiff metacarpophalangeal joints, and cataract of the left eye. Chromosome studies showed two marker chromosomes, the larger of which appeared to be a ring chromosome varying greatly in size, while the smaller one remained constant in size. Chromosome abnormalities may be associated with several forms of hypogonadotropic hypogonadism.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; *Chromosome Aberrations; Hypogonadism/*genetics; Mental Retardation/*genetics; *Ring Chromosomes

ADDITIONAL MESH HEADINGS: Adolescence; Case Report; Chromosome Banding; Human; Kidney/abnormalities; Male; Spina Bifida Occulta/genetics; Vesico-Ureteral Reflux/genetics; 1985/04; 1985/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

TITLE: Relationship between hair/eye color and primary vesicoureteral reflux in children.

AUTHORS: Urrutia EJ; Lebowitz RL

SOURCE: Urol Radiol 1985;7(1):23-4

CITATION IDS: PMID: 3984113 UI: 85169527

ABSTRACT: The relationship between hair/eye color and primary vesicoureteral reflux was analyzed in more than 900 children. Children with blonde hair/blue eyes did not show an increased prevalence of reflux nor did any other hair/eye combination. With the possible exception of rufous coloring, the color of the hair and eyes are poor predictors of the competence of the ureteral orifice.

MAIN MESH HEADINGS: *Eye Color; *Hair Color; Vesico-Ureteral Reflux/*etiology

ADDITIONAL MESH HEADINGS: Child; Child, Preschool; Female; Human; Infant; Infant, Newborn; Male; 1985/01; 1985/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

TITLE: Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

AUTHORS: Halal F; Homsy M; Perreault G

SOURCE: Am J Med Genet 1984 Apr;17(4):753-62

CITATION IDS: PMID: 6426304 UI: 84200267

ABSTRACT: Seven individuals from 3 generations of a French-Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed renal ectopia without fusion; other urinary tract anomalies were vesicoureteral reflux and bladder diverticula. Ocular manifestations varied from complete eye coloboma, coloboma of the optic nerve, ptosis, and Duane anomaly. The syndrome seems to be an autosomal dominant trait with high penetrance and variable expressivity. Dermatoglyphics were abnormal; in addition to a triradius t' present in all, some also had various combinations of high TRC, thenar exit of A line, and rare patterns in interdigital area IV.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; Eye/*abnormalities; *Eye Abnormalities; *Genes, Dominant; Kidney/*abnormalities; Thumb/*abnormalities

ADDITIONAL MESH HEADINGS: Adolescence; Adult; Case Report; Coloboma/genetics; Dermatoglyphics; Female; Fingers/abnormalities; Human; Infant; Male; Middle Age; Nails/abnormalities; Pedigree; Quebec; Syndrome; Toes/abnormalities; 1984/04; 1984/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

TITLE: Ocular and systemic manifestations of the Bardet-Biedl syndrome.

AUTHORS: Campo RV; Aaberg TM

SOURCE: Am J Ophthalmol 1982 Dec;94(6):750-6

CITATION IDS: PMID: 7180914 UI: 83097769

ABSTRACT: Four women with the Bardet-Biedl syndrome had ophthalmoscopic findings compatible with a severe rod-cone degeneration. The patients were legally blind (visual acuity, 20/200 or worse) in one or both eyes before the age of 30 years. Two patients with early involvement had macular bull's-eye pigment epithelial changes. Two other patients had more advanced disease with geographic atrophy of the macular pigment epithelium and underlying choriocapillaris. Bone spicule formation was variable. Electrophysiologic findings were consistent with severe derangement of both the rod and cone systems. All four patients had intraretinal capillary leakage along the vascular arcades and from the optic nerve without cystoid macular edema. Extensive endocrinologic evaluation showed no objective evidence of hypogenitalism in the three patients tested. Three patients had renal disease, secondary to vesicoureteral reflux, or hypertension, or both.

MAIN MESH HEADINGS: Blindness/*complications; Hand/*abnormalities; Obesity/*congenital; Retinal Degeneration/*complications; Retinitis Pigmentosa/*complications

ADDITIONAL MESH HEADINGS: Adolescence; Adult; Atrophy; Case Report; Female; Human; Hypertension/complications; Mental Retardation/complications; Photoreceptors; Pigment Epithelium of Eye/pathology; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.; Syndrome; Vesico-Ureteral Reflux/complications; 1982/12; 1982/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

GRANT/CONTRACT ID: IP30-EY-01931/EY/NEI

TITLE: [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]

VERNACULAR TITLE: Cat Eye-Syndrom. Klinische und cytogenetische Differentialdiagnose

AUTHORS: Kunze J; Tolksdorf M; Wiedemann HR

SOURCE: Humangenetik 1975;26(4):271-89

CITATION IDS: PMID: 50268 UI: 75210290

ABSTRACT: We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

MAIN MESH HEADINGS: Anus, Imperforate/*diagnosis; *Eye

ADDITIONAL MESH HEADINGS: Abnormalities, Multiple/diagnosis; Alkaline Phosphatase/blood; Autoradiography; Child, Preschool; Chromatids; Chromosome Aberrations; Coloboma; Cytogenetics; Diagnosis, Differential; English Abstract; Female; Fluorescence; Heterochromatin; Human; Infant; Infant, Newborn; Iris; Karyotyping; Leukocytes/analysis; Male; Pelvis/abnormalities; Staining; Syndrome; Thymidine; Tritium; Ureter/abnormalities; Vesico-Ureteral Reflux; 1975/01; 1975/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE; REVIEW

LANGUAGES: Ger

TITLE: Hemorrhagic cystitis and vesicoureteral reflux secondary to cytotoxic therapy for childhood malignancies.

AUTHORS: Renert WA; Berdon WE; Baker DH

SOURCE: Am J Roentgenol Radium Ther Nucl Med 1973 Mar;117(3):664-9

CITATION IDS: PMID: 4511884 UI: 73144235

MAIN MESH HEADINGS: Cyclophosphamide/*adverse effects; Cystitis/*chemically induced; Cytarabine/*adverse effects; Hematuria/*chemically induced; Neoplasms/*drug therapy; Vesico-Ureteral Reflux/*chemically induced

ADDITIONAL MESH HEADINGS: Bladder/radiography; Child, Preschool; Cyclophosphamide/therapeutic use; Cystitis/radiography; Cytarabine/therapeutic use; Eye Neoplasms/drug therapy; Female; Ganglioneuroma/drug therapy; Human; Infant; Leukemia, Myelocytic, Acute/drug therapy; Male; Retinoblastoma/drug therapy; Stomach Neoplasms/drug therapy; Vesico-Ureteral Reflux/radiography; 1973/03; 1973/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

TITLE: [Ophthalmo-cerebro-renal syndrome (OCR) in an infant 6 weeks old]

VERNACULAR TITLE: Zespol oczno-mozgowo-nerkowy (OCR) u 6 tygodniowego niemowlecia.

AUTHORS: Torbicka E; Prokurat H; Bachorek M; Pucek Z; Krauss J

SOURCE: Przegl Lek 1972;29(9):829-32

CITATION IDS: PMID: 5085119 UI: 73035949

MAIN MESH HEADINGS: *Ammonia; Eye Diseases/*genetics; Kidney Diseases/*genetics; Mental Retardation/*genetics

ADDITIONAL MESH HEADINGS: Aminoaciduria, Renal/diagnosis; Growth Disorders; Human; Infant; Intestinal Absorption; Male; Syndrome; Urinary Tract Infections/diagnosis; Vesico-Ureteral Reflux/diagnosis; 1972/01; 1972/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Pol

TITLE: Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

AUTHORS: Eccles MR; Schimmenti LA

AUTHOR AFFILIATION: Department of Biochemistry, University of Otago, Dunedin, New Zealand. meccles@otago.ac.nz

SOURCE: Clin Genet 1999 Jul;56(1):1-9

CITATION IDS: PMID: 10466411 UI: 99394287

ABSTRACT: Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal-coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.

MAIN MESH HEADINGS: Coloboma/*genetics; DNA-Binding Proteins/*genetics; *Gene Expression Regulation, Developmental; Kidney Diseases/*genetics; *Mutation; Optic Nerve Diseases/*genetics; Transcription Factors/*genetics

ADDITIONAL MESH HEADINGS: Abnormalities, Multiple/genetics; Animal; Disease Models, Animal; Human; Support, Non-U.S. Gov't; Syndrome; 1999/08; 1999/31 09:00

PUBLICATION TYPES: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL

CAS REGISTRY NUMBERS: 0 (DNA-Binding Proteins); 0 (Pax-2 protein); 0 (Transcription Factors)

LANGUAGES: Eng

TITLE: The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

AUTHORS: Cunliffe HE; McNoe LA; Ward TA; Devriendt K; Brunner HG; Eccles MR

AUTHOR AFFILIATION: Department of Biochemistry, University of Otago, Dunedin, New Zealand.

SOURCE: J Med Genet 1998 Oct;35(10):806-12

CITATION IDS: PMID: 9783702 UI: 98455023

ABSTRACT: The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renal-coloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; Coloboma/*genetics; DNA-Binding Proteins/*genetics; Transcription Factors/*genetics; Urogenital Abnormalities/*genetics; Vesico-Ureteral Reflux/*genetics

ADDITIONAL MESH HEADINGS: Adolescence; Adult; Child; Child, Preschool; DNA/blood; DNA Mutational Analysis; Exons/genetics; Female; Heterozygote; Human; Karyotyping; Male; Middle Age; Phenotype; Polymerase Chain Reaction/methods; Polymorphism, Single-Stranded Conformational; Support, Non-U.S. Gov't; Syndrome; 1998/10; 1998/23 02:01

PUBLICATION TYPES: JOURNAL ARTICLE

CAS REGISTRY NUMBERS: 0 (DNA-Binding Proteins); 0 (Pax-2 protein); 0 (Transcription Factors); 9007-49-2 (DNA)

LANGUAGES: Eng

TITLE: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

AUTHORS: Devriendt K; Matthijs G; Van Damme B; Van Caesbroeck D; Eccles M; Vanrenterghem Y; Fryns JP; Leys A

AUTHOR AFFILIATION: Center for Human Genetics, University of Leuven, Belgium. koen.devriendt@med.kuleuven.ac.be

SOURCE: Hum Genet 1998 Aug;103(2):149-53

CITATION IDS: PMID: 9760197 UI: 98430997

ABSTRACT: We present a family with autosomal-dominant inheritance of renal insufficiency caused by renal hypoplasia in six individuals. In all affected individuals, signs of optic disk dysplasia were detected, but most patients were asymptomatic. A heterozygous missense mutation in the PAX2 gene causing a Gly75 to Ser substitution was present in all affected individuals. A second, unrelated patient presented with ocular complaints related to optic disk dysplasia, and had a history of vesico-ureteral reflux. A heterozygous hexanucleotide duplication in the PAX2 gene was detected leading to the duplication of GluThr at positions 74 and 75. The mutations in these two families are the first mutations in the PAX2 gene that do not lead to a truncated protein. Mechanistically, these mutations are expected to result in abnormal folding of the PAX2 protein. These observations further expand the spectrum of clinical features associated with PAX2 mutations, and suggest that a distinct genetic disorder can be identified in patients with renal dysplasia through a careful eye examination. As the ocular manifestations in this syndrome are variable anomalies of retinal and optic disk dysplasia, we prefer the term "papillo-renal syndrome".

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; Coloboma/*genetics; DNA-Binding Proteins/*genetics; *Gene Duplication; Kidney/*abnormalities; Kidney Failure/*genetics; *Mutation, Missense; Optic Disk/*abnormalities; Retinal Vessels/*abnormalities; Transcription Factors/*genetics

ADDITIONAL MESH HEADINGS: Adolescence; Child; Child, Preschool; DNA Mutational Analysis; Female; Human; Male; Pedigree; Syndrome; 1998/10; 1998/06 02:02

PUBLICATION TYPES: JOURNAL ARTICLE

CAS REGISTRY NUMBERS: 0 (DNA-Binding Proteins); 0 (Pax-2 protein); 0 (Transcription Factors)

LANGUAGES: Eng

TITLE: A case of Duane's retraction syndrome with multiple congenital malformations.

AUTHORS: Kadayifcilar S; Aydin P; Oto S

AUTHOR AFFILIATION: Department of Ophthalmology, Baskent University School of Medicine, Ankara, Turkey.

SOURCE: Eur J Ophthalmol 1997 Apr-Jun;7(2):193-5

CITATION IDS: PMID: 9243226 UI: 97387163

ABSTRACT: Duane's retraction syndrome is associated with various ocular and systemic abnormalities. We report a case with bilateral Duane's retraction syndrome type I accompanied by renal agenesis, vesico-ureteral reflux, patent ductus arteriosus, and external ear malpositioning. Because of disabling consequences, we recommend a thorough physical examination and screening for renal and cardiac abnormalities in all patients presenting with Duane's reaction syndrome.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; Duane Retraction Syndrome/*congenital; Ductus Arteriosus, Patent/*genetics; Ear, External/*abnormalities; Kidney/*abnormalities; Vesico-Ureteral Reflux/*congenital

ADDITIONAL MESH HEADINGS: Adolescence; Case Report; Human; Male; 1997/04; 1997/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

TITLE: Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition?

AUTHORS: Stoll C; Alembik Y; Dott B

AUTHOR AFFILIATION: Institut de Puericulture, Centre Hospitalo-Universitaire, Strasbourg, France.

SOURCE: Ann Genet 1994;37(4):207-9

CITATION IDS: PMID: 7710257 UI: 95225629

ABSTRACT: The authors report on a child in which the occurrence of cardiac defect, urinary tract anomaly, and Duane anomaly was associated with mental retardation. The parents were first cousins. The index case was a 3-year-old girl referred for mental retardation. Auricular septal defect was diagnosed at birth. She was surgically treated for bilateral vesico-ureteral reflux at 2 years of age. At examination, she had a mild facial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. The Duane anomaly may occur in association with various partly overlapping syndromes that may be part of the same clinical spectrum, as the cervico-oculo-acoustic syndrome, the cat eye syndrome and syndromes inherited in an autosomal dominant fashion: the acro-reno-ocular syndrome and the Okihiro syndrome. Their patient seems to have a different condition from all of these previously reported syndromes associated with the Duane anomaly. Their suggest that this condition is best described as a new syndrome.

MAIN MESH HEADINGS: Abnormalities, Multiple/*genetics; Duane Retraction Syndrome/*genetics; *Genes, Recessive; Heart Defects, Congenital/*genetics; Mental Retardation/*genetics; Urinary Tract/*abnormalities

ADDITIONAL MESH HEADINGS: Case Report; Child, Preschool; Female; Human; Pedigree; 1994/01; 1994/01 00:00

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

TITLE: Ocular and systemic manifestations of the Bardet-Biedl syndrome.

AUTHORS: Campo RV; Aaberg TM

SOURCE: Am J Ophthalmol 1982 Dec;94(6):750-6

CITATION IDS: PMID: 7180914 UI: 83097769

MAIN MESH HEADINGS: Blindness/*complications; Hand/*abnormalities; Obesity/*congenital; Retinal Degeneration/*complications; Retinitis Pigmentosa/*complications

PUBLICATION TYPES: JOURNAL ARTICLE

LANGUAGES: Eng

GRANT/CONTRACT ID: IP30-EY-01931/EY/NEI

Branchio-oto-renal syndrome*1

Richard J. h. Smitha, , and Charles Schwartzb ;

a Molecular Otolaryngology Research Labs, Department of Otolaryngology, University of Iowa, Iowa City, Iowa USA

b Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina USA

Available online 21 November 1998.

Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene.

Author Keywords: Hearing loss; Branchial arch anomalies

The Lancet

Volume 348, Issue 9029

14 September 1996

Pages 725-728

PII: S0140-6736(96)03419-8

Grand round

Vesicoureteric reflux: all in the genes? 1

S Feathera, I Gordonc, RA Risdond, AS Woolfb and K Verrier Jonese, *

a Nephro-urology and Molecular Genetics Units, Institute of Child Health, London WC1N 1EH, UK

b Developmental Biology Unit, Institute of Child Health, London WC1N 1EH, UK; c Department of Radiology, Hospital for Sick Children, London, UK; d Department of Histopathology, Hospital for Sick Children, London, UK; e Department of Paediatric Nephrology, Cardiff Royal Infirmary, Cardiff, UK

Received 21 March 1996; accepted 15 May 1996. Available online 21 January 1998.

Abstract

Vesicoureteric reflux (retrograde passage of urine from the bladder into the ureter) can be secondary to bladder outlet obstruction or to a neuropathic bladder. However, most occurrences are due to a primary anatomical defect in the junction of the ureter and the bladder. Primary vesicoureteric reflux is usually found during investigation of urinary tract infection in children, but screening shows that it is present in 1¯2% of symptom-free children. Moreover, it is often inherited in an autosomal dominant manner, making it one of the commonest of inherited disorders. Mutations of a transcription factor gene which controls prenatal development of the kidney and urinary tract have been found in a rare syndrome which includes vesicoureteric reflux. Vesicoureteric reflux is associated with pyelonephritis, renal scarring, hypertension and renal failure and these associations may be prevented by medical treatment. Early screening for this reflux is recommended in families with other affected members.

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies, Journal of Medical Genetics, Volume 35, Issue 10, 1998, Pages 806-812

Cunliffe H.E.; McNoe L.A.; Ward T.A.; Devriendt K.; Brunner H.G.; Eccles M.R.

Teratogenic Actions of Ethanol in the Mouse: A Minireview, Pharmacology Biochemistry and Behavior, Volume 55, Issue 4, December 1996, Pages 501-513

Howard C. Becker, Jaime L. Diaz-Granados and Carrie L. Randall

Pax3, Neural Crest and Cardiovascular Development, Trends in Cardiovascular Medicine, Volume 6, Issue 8, November 1996, Pages 255-260

Jonathan A. Epstein

Biological Abstracts 1980 - March 2000

# Search History Results

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2 vesico-ureteral reflux.mp. [mp=title, keywords, heading words, registry words, abstract, biosystematic codes/super taxa, title, book title, original language book title, title, original language book title, biosystematic codes/super taxa, subject headings, heading words] 157

3 (vesicoureter$ reflux or vur).mp. [mp=title, keywords, heading words, registry words, abstract, biosystematic codes/super taxa, title, book title, original language book title, title, original language book title, biosystematic codes/super taxa, subject headings, heading words] 1306

4 (vesicoureter$ reflux or vur).af. 1306

5 (Ophthalmology or eye or retina$ or visual or ocular).af. 172544

6 optic.af. 17245

7 4 and (5 or 6) 20

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Results of your search (set 8): from 7 [4 and (5 or 6)] keep 1-7,9-11,19

Citations available: 11

Citations displayed: 1-11

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Citation 1

Accession Number BACD200000031232

Author/Editor/Inventor Dressler Gregory R [a]. Woolf Adrian S.

Institution [a] Department of Pathology, Howard Hughes Medical Institute, The University of Michigan Medical Center, 1150 W. Medical Center Drive, MSRB I, Ann Arbor, MI USA.

Country USA.

Title Pax2 in development and renal disease.

Source International Journal of Developmental Biology. 43(5). 1999. 463-468.

Year of Publication 1999

Publication Type Literature Review.

ISSN 0214-6282

Concept Codes: Urinary System and External Secretions/General; Methods [15501]; Genetics and Cytogenetics/Animal [03506]; Genetics and Cytogenetics/Human [03508]; Sense Organs, Associated Structures and Functions/General; Methods [20001]; Developmental Biology/Embryology-General and Descriptive [25502]; Biochemical Studies/General [10060]; Metabolism/General Metabolism; Metabolic Pathways [13002]

Biosystematic Codes Hominidae [86215] Muridae [86375]

Languages English.

Summary Language English.

Abstract Pax genes are associated with a variety of developmental mutations in mouse and man that are gene dosage sensitive, or haploinsufficient. The Pax2 gene encodes a DNA binding, transcription factor whose expression is essential for the development of the renal epithelium. Both gain and loss of function mutants in the mouse demonstrate a requirement for Pax2 in the conversion of metanephric mesenchymal precursor cells to the fully differentiated tubular epithelium of the nephron. However, Pax2 expression is down-regulated as cells leave the mitotic cycle. Humans carrying a single Pax2 mutant allele exhibit renal hypoplasia, vesicoureteric reflux, and optic nerve colobomas. Conversely, persistent expression of Pax2 has been demonstrated in a variety of cystic and dysplastic renal diseases and correlates with continued proliferation of renal epithelial cells. Thus, Pax2 misexpression may be a key determinant in the initiation and progression of renal diseases marked by increased or deregulated cell proliferation.

Major Concepts Molecular Genetics (Biochemistry and Molecular Biophysics). Urinary System; (Chemical Coordination and Homeostasis). Development.

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia; Muridae: Rodentia, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae); mouse (Muridae): animal model.

Taxa Notes Animals; Chordates; Humans; Mammals; Nonhuman Mammals; Nonhuman; Vertebrates; Primates; Rodents; Vertebrates.

Parts, Structures & Systems of Organisms nephron: excretory system; renal epithelium: development, excretory system.

Diseases cystic renal disease: urologic disease; dysplastic renal disease: urologic disease; optic nerve coloboma: congenital disease, eye disease; renal hypoplasia: congenital disease, urologic disease; vesicoureteric reflux: urologic disease.

Chemicals & Biochemicals human Pax2 gene (Hominidae): mutations; mouse Pax2 gene (Muridae): mutations.

Update Code 200003. BIOSIS Update: 20000126.

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Citation 2

Accession Number BACD200000014447

Author/Editor/Inventor Schimmenti Lisa A [a]. Shim Heather H. Wirtschafter Jonathan D. Panzarino Valerie A. Kashtan Clifford E. Kirkpatrick Susan J. Wargowski David S. France Thomas D. Michel Eduard. Dobyns William B.

Institution [a] Department of Human Genetics, Gonda (Goldschmeid) Neuroscience and Genetics Research Center, UCLA School of Medicine, 695 Charles E. Young Drive South, Los Angeles, CA, 90095-7088 USA.

Country USA.

Title Homonucleotide expansion and contraction mutations of PAX2 and inclusion of; Chiari 1 malformation as part of Renal-Coloboma syndrome.

Source Human Mutation. 14(5). 1999. 369-376.

Year of Publication 1999

Publication Type Article.

ISSN 1059-7794

Concept Codes Genetics and Cytogenetics/Human [03508]; Biochemical Studies/General [10060]; Urinary System and External Secretions/General; Methods [15501]; Sense Organs, Associated Structures and Functions/General; Methods [20001]

Biosystematic Codes Hominidae [86215]

Languages English.

Summary Language English.

Abstract Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G) missense mutations. The mother and daughter have optic nerve colobomas and the daughter has vesicoureteral reflux. The severely affected girl developed renal failure and has bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari 1 malformation. We examined genomic DNA from these individuals by SSCP and sequencing. The mother and daughter had a novel mutation: a contraction in a string of 7 G's to 6 G's in one allele of PAX2, leading to a premature stop codon two amino acids downstream. The severely affected girl hadan expansion to 8 G's, leading to a premature stop codon 27 amino acids downstream. The 8 G expansion has been found in other patients without brain anomalies and has occurred spontaneously in a mouse model, PAX21Neu. We expand the known phenotype associated with mutations in PAX2 to include brain malformations. The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes.

Major Concepts Medical Genetics (Allied Medical Sciences). Molecular Genetics (Biochemistry and Molecular Biophysics). Nephrology (Human Medicine, Medical Sciences). Ophthalmology (Human Medicine, Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae): patient.

Taxa Notes Animals; Chordates; Humans; Mammals; Primates; Vertebrates.

Diseases renal-coloboma syndrome: Mendelian Inheritance in Man 167409, clinical phenotype, eye disease, genetic disease, urologic disease.

Chemicals & Biochemicals human PAX2 gene (Hominidae): homonucleotide contraction, homonucleotide; expansion, mutation.

Miscellaneous Descriptors chiari 1 malformation.

Update Code 200002. BIOSIS Update: 20000110.

Citation 3

Accession Number BACD199900273111

Author/Editor/Inventor Eccles Michael R [a]. Schimmenti Lisa A.

Institution [a] Cancer Genetics Laboratory, Department of Biochemistry, University of; Otago, 676 Cumberland Street, Dunedin New Zealand.

Country New Zealand.

Title Renal-coloboma syndrome: A multi-system developmental disorder caused by PAX2 mutations.

Source Clinical Genetics. 56(1). July, 1999. 1-9.

Year of Publication 1999

Publication Type Literature Review.

ISSN 0009-9163

Concept Codes Urinary System and External Secretions/General; Methods [15501]; Genetics and Cytogenetics/Human [03508]; Sense Organs, Associated Structures and Functions/General; Methods [20001]; Developmental Biology/Embryology-General and Descriptive [25502]; Biochemical Studies/General [10060]

Biosystematic Codes Hominidae [86215]

Languages English.

Summary Language English.

Abstract Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal-coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.

Major Concepts Medical Genetics (Allied Medical Sciences). Ophthalmology; (Human Medicine, Medical Sciences). Urology (Human Medicine, Medical Sciences).

Diseases renal-coloboma syndrome: Mendelian Inheritance in Man 120330, brief history, clinical features, urologic disease, congenital disease, eye disease.

Chemicals & Biochemicals PAX2 protein: expression, function; human PAX2 gene (Hominidae): expression pattern, mutations.

Miscellaneous Descriptors genotype-phenotype correlations; vesico-ureteral reflux.

Update Code 199920. BIOSIS Update: 19990930.

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Citation 4

Accession Number BACD199900067435

Author/Editor/Inventor Rauch Anita. Feindt Karla A. Leonard Claire O. Thompson Joel A. Hoffman Robert O. Creel Donnell J. Opitz John M [a].

Institution [a] Suite 2100, Primary Child. Med. Cent., 100 N. Medical Drive, Salt Lake; City, UT 84113-1100 USA.

Country USA.

Title Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: The M syndrome.

Source American Journal of Medical Genetics. 82(2). Jan. 15, 1999. 194-198.

Year of Publication 1999

Publication Type Article.

ISSN 0148-7299

Concept Codes Genetics and Cytogenetics/Human [03508]; Behavioral Biology/Human Behavior [07004]; Sense Organs, Associated Structures and Functions/General; Methods [20001]; Nervous System/General; Methods [20501]; Psychiatry/Psychopathology; Psychodynamics and Therapy [21002]; Developmental Biology/Embryology-General and Descriptive [25502]

Biosystematic Codes Hominidae [86215]

Languages English.

Abstract We report on two sisters from healthy families with a syndrome of severe developmental delay, ataxia, impaired social interaction, a seizure disorder with early onset but without epileptiform electroencephalogram changes, and a striking light-fixating behavior which was associated with retinal cone dystrophy. Additionally, they have minor anomalies including peripheral iris hypoplasia, bluish sclerae, mild anteversion of nostrils, micrognathia, ear anomalies, broad halluces and thumbs, hypoplastic toenails, short perineal body, "Mongolian spots," mild hirsutism, hypoplastic ridges in the hypothenar area, and distal axial triradii. Growth and general health are normal in both, but one also had tetralogy of Fallot and vesicoureteral reflux. Because this condition appears to be previously undescribed we postulate a new autosomal recessive disorder with light-fixating behavior and retinal cone dystrophy as leading symptom.

Major Concepts Medical Genetics (Allied Medical Sciences). Neurology (Human Medicine,; Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae).

Taxa Notes Animals; Chordates; Humans; Mammals; Primates; Vertebrates.

Diseases ataxia: nervous system disease; retinal cone dystrophy: eye disease; seizure disorder: nervous system disease; MCA/MR syndrome [multiple anomalies/mental retardation syndrome]: behavioral and mental disorders, nervous system disease, genetic disease, congenital disease.

Miscellaneous Descriptors Case Study.

Update Code 199906. BIOSIS Update: 19990302.

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Citation 5

Accession Number BIOA199800496264

Author/Editor/Inventor Cunliffe H E. McNoe L A. Ward T A. Devriendt K. Brunner H G. Eccles M R [a].

Institution [a] Cancer Genet. Lab., Dep. Biochem., Univ. Otago, PO Box 56, Dunedin New; Zealand.

Country New Zealand.

Title The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Source Journal of Medical Genetics. 35(10). Oct., 1998. 806-812.

Year of Publication 1998

Publication Type Article.

ISSN 0022-2593

Concept Codes

Genetics and Cytogenetics/Human [03508]; Urinary System and External Secretions/General; Methods [15501]; Reproductive System/General; Methods [16501]; Sense Organs, Associated Structures and Functions/General; Methods [20001];

Biosystematic Codes Hominidae [86215]

Languages English.

Abstract The PAX2 gene is mutated in patients with ocular colobomas, vesicoureteral reflux (VUR), and kidney anomalies (renalcoloboma syndrome, OMIM 120330). The three abnormalities which make up this syndrome also occur in isolation, but the causal genes are not known. PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS. In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated urogenital anomalies. Using PCR-SSCP, most or all exons of PAX2 were examined in blood DNA from 99 patients who have either ocular anomalies alone or a combination of ocular and urogenital conditions. PAX2 mutations were not detected in patients with ocular colobomas, either in isolation or with associated abnormalities, except in one patient with typical renal-coloboma syndrome. We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renalcoloboma syndrome where PAX2 is known to be the aetiological cause.

Major Concepts Molecular Genetics (Biochemistry and Molecular Biophysics). ; Ophthalmology (Human Medicine, Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae): patient.

Taxa Notes Animals; Chordates; Humans; Mammals; Primates; Vertebrates.

Diseases coloboma: congenital disease, eye disease; renal-coloboma syndrome: congenital disease, urologic disease, eye disease.

Chemicals & Biochemicals PAX2 gene: mutation prevalence.

Miscellaneous Descriptors vesicoureteric reflux; Medical; Sciences/Human Medicine/Urology.

Update Code 199845. BIOSIS Update: 19981006.

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Citation 6

Accession Number BIOA199800312415

Author/Editor/Inventor Shima Hiroki [a]. Mori Yoshinori. Nojima Michio. Miyamoto Iwai. Chokyu Hirofumi. Ikoma Fumihiko.

Institution [a] Dep. Urol., Hyogo Coll. Med., 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663 Japan.

Country Japan.

Title Lower urinary tract problems in patients with enuresis.

Source European Urology. 33(SUPPL. 3). April, 1998. 37-40.

Year of Publication 1998

Publication Type Article.

ISSN 0302-2838

Concept Codes Urinary System and External Secretions/General; Methods [15501]; Pathology, General and Miscellaneous/Diagnostic [12504]; Pathology, General and Miscellaneous/Therapy (1971- ) [12512]; Muscle/General; Methods [17501]

Biosystematic Codes Hominidae [86215]

Languages English.

Abstract Objective(s): Two hundred and thirty-eight children (170 males, and 68 females) with nocturnal enuresis were retrospectively studied for lower urinary tract problems. Surgical correction of subclinical organic obstruction in the lower urinary tract was evaluated for the improvement of bed-wetting. Methods: One hundred and fifty-five micturating cystourethrography (MCU), and 89 urodynamic studies were performed. Optic internal urethrotomy was done in a boy, and meatoplasty in a girl for urethral 'ring' stenosis (URS). Results: Nocturnal enuresis was found in 153 cases and nocturnal enuresis associated with daytime enuresis in 67 cases. Vesicoureteral reflux was found in 30, URS in 42, and posterior urethral valve in 3 cases on MCU. Detrusor instability was recognized in 39.4% of 38 cases of nocturnal enuresis associated with daytime enuresis and in 25.0% of 51 cases of nocturnal enuresis. Surgery brought 73.8% improvement of bed-wetting in 42 cases. Conclusions: Surgical correction of subclinical obstruction in the lower urinary tract might contribute to the earlier resolution of bed-wetting in children with nocturnal and/or diurnal enuresis.

Major Concepts Urology (Human Medicine, Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae): adolescent, child, male, patient, female.

Taxa Notes Animals; Chordates; Humans; Mammals; Primates; Vertebrates.

Parts, Structures & Systems of Organisms detrusor: excretory system, muscular system, instability; lower urinary; tract: excretory system.

Diseases nocturnal enuresis: urologic disease; posterior urethral valve: urologic; disease; subclinical obstruction; urethral ring stenosis: urologic disease;; vesicoureteral reflux: urologic disease.

Methods & Equipment micturating cytourethrography: diagnostic method; surgical correction:; surgical method, therapeutic method.

Update Code 199828. BIOSIS Update: 19980513.

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Citation 7

Accession Number BIOA199800228282

Author/Editor/Inventor Choi Kai-Luk. McNoe Leslie A. French Michelle C. Guilford Parry J. Eccles Michael R [a].

Institution [a] Cancer Genet. Lab., Dep. Biochem., Univ. Otago, P.O. Box 56, Dunedin New Zealand.

Country New Zealand.

Title Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.

Source Journal of Medical Genetics. 35(4). April, 1998. 338-339.

Year of Publication 1998

Publication Type Article.

ISSN 0022-2593

Concept Codes Genetics and Cytogenetics/Human [03508]; Urinary System and External Secretions/General; Methods [15501]; Sense Organs, Associated Structures and Functions/General; Methods [20001]; Developmental Biology/Embryology-General and Descriptive [25502]

Biosystematic Codes Hominidae [86215]

Languages English.

Abstract Vesicoureteric reflux (VUR) is a common childhood condition characterized by regurgitation of urine from the bladder to the kidney. It is the commonest cause of end stage renal failure in children and an important cause in adults. Primary VUR is often familial, suggesting that genetic factors play an important role in its aetiology. Recently, VUR was observed as part of a syndrome, involving optic nerve colobomas and renal anomalies, caused by mutations of the PAX2 gene. PAX2 is a member of the paired box family of genes and is expressed in the ureteric bud and differentiating nephrogenic mesenchyme of the developing kidney. PAX2 has been shown to play a critical role in the development of both the kidney and the ureter. The occurrence of VUR in one family with the PAX2 mutation, and the expression pattern of PAX2 in developing ureteric bud, strongly suggested that PAX2 could be the cause of primary familial VUR. Single strand conformational polymorphism (SSCP) analysis of 23 affected subjects in eight families with primary familial VUR showed no alterations in exons 2-5 of the PAX2 gene. In addition, a polymorphic dinucleotide repeat marker located within the PAX2 gene segregated independently of the disease trait in one large family who primarily had VUR or reflux nephropathy. These results suggest that PAX2 is not a major cause of primary familial reflux.

Major Concepts Medical Genetics (Allied Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae): patient.

Taxa Notes Animals; Chordates; Humans; Mammals; Primates; Vertebrates.

Diseases vesicoureteric reflux: congenital disease,; urologic disease, eye disease.

Chemicals & Biochemicals PAX2 gene.

Miscellaneous Descriptors pedigree chart.

Update Code 199822. BIOSIS Update: 19980413.

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Citation 8

Accession Number BIOA199699087256

Author/Editor/Inventor Sanyanusin Phaikasame. Norrish Judy H. Ward Teresa A. Nebel Almut. McNoe Leslie A. Eccles Michael R [a].

Institution [a] Cancer Genetics Lab., Dep. Biochem., Univ. Otago, P.O. Box 56, Dunedin; New Zealand.

Country New Zealand.

Title Genomic structure of the human PAX2 gene.

Source Genomics. 35(1). 1996. 258-261.

Year of Publication 1996

Publication Type Article.

ISSN 0888-7543

Concept Codes Genetics and Cytogenetics/Human [03508]; Biochemical Studies/Nucleic Acids, Purines and Pyrimidines [10062]; Biochemical Studies/Proteins, Peptides and Amino Acids [10064]; Biophysics/Molecular Properties and Macromolecules [10506]

Biosystematic Codes Hominidae [86215]

Languages English.

Abstract PAX2 is one of nine PAX genes that have been described in vertebrates. Each PAX gene contains a conserved paired box domain that was first identified in Drosophila. PAX2 encodes a transcription factor that has a critical role in the development of the urogenital tract, the eyes, and the CNS. Recently, we reported a mutation of PAX2 in patients with optic nerve coloboma, vesicoureteric reflux, and renal anomalies. To facilitate further analysis of PAX2 mutations in human disease, we have now determined the complete structure of the human PAX2 gene. Five genomic lambda clones containing human PAX2 gene sequences were isolated. Sequencing and restriction mapping of these clones showed that human PAX2 was composed of 12 exons spanning approximately 70 kb. Two alternatively spliced exons and a dinuclotide repeat polymorphism were also determined in PAX2. These data will be useful in characterizing the role of PAM in human disease.

Major Concepts Biochemistry and Molecular Biophysics. Genetics.

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae).

Taxa Notes animals; chordates; humans; mammals; primates; vertebrates.

Chemicals & Biochemicals GENBANK-U45252; GENBANK-U45255; GENBANK-U45249; GENBANK-U45248; ; GENBANK-U45247; GENBANK-U45254; GENBANK-U45246; GENBANK-U45250; ; GENBANK-U45253; GENBANK-U45245; GENBANK-U45251.

Registry Numbers 179577-92-5: GENBANK-U45252; 179577-95-8: GENBANK-U45255; 179577-89-0:; GENBANK-U45249; 179577-88-9: GENBANK-U45248; 179577-87-8: GENBANK-U45247; ; 179577-94-7: GENBANK-U45254; 179577-86-7: GENBANK-U45246; 179577-90-3:; GENBANK-U45250; 179577-93-6: GENBANK-U45253; 179577-85-6: GENBANK-U45245; ; 179577-91-4: GENBANK-U45251.

Miscellaneous Descriptors ALTERNATIVELY SPLICED EXONS; BIOCHEMISTRY AND MOLECULAR BIOPHYSICS/MOLECULAR; GENETICS; DINUCLEOTIDE REPEAT POLYMORPHISMS; GENOMIC STRUCTURE; PAX2 GENE;; STRUCTURE.

Update Code 199600.

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Citation 9

Accession Number BIOA199698605370

Author/Editor/Inventor Schimmenti Lisa A [a]. Pierpont Mary Ella. Carpetner Becky L M. Kashtan Clifford E. Johnson Max R. Dobyns William B.

Institution [a] UCLA Med. Genetics, 10833 LeConte Ave., MDCC 22-499, Los Angeles, CA 90095-1752 USA.

Country USA.

Title Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Source American Journal of Medical Genetics. 59(2). 1995. 204-208.

Year of Publication 1995

Publication Type Article.

ISSN 0148-7299

Concept Codes Genetics and Cytogenetics/Human [03508]; Urinary System and External Secretions/Pathology [15506]; Sense Organs, Associated Structures and Functions/Pathology [20006]; Sense Organs, Associated Structures and Functions/Deafness, Speech and; Hearing [20008]; Nervous System/Pathology [20506]; Neoplasms and Neoplastic Agents/Pathology; Clinical Aspects; Systemic Effects; [24004]; Pediatrics [25000]; Developmental Biology/Embryology-Descriptive Teratology and Teratogenesis; [25552]

Biosystematic Codes Hominidae [86215]

Languages English.

Major Concepts Development. Genetics. Neurology (Human Medicine, Medical Sciences). ; Oncology (Human Medicine, Medical Sciences). Pediatrics (Human Medicine,; Medical Sciences). Sense Organs (Sensory Reception). Urology (Human; Medicine, Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae).

Taxa Notes animals; chordates; humans; mammals; primates; vertebrates.

Miscellaneous Descriptors AUTOSOMAL DOMINANT INHERITANCE; CASE STUDY; CHILD; CONGENITAL RENAL FAILURE; HEARING LOSS; PAX2 GENE; PEDIGREE.

Update Code 199600.

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Citation 10

Accession Number BIOA199598235052

Author/Editor/Inventor Sanyanusin Phaikasame. Schimmenti Lisa A. McNoe Leslie A. Ward Teresa A. Pierpoint Mary Ella M. Sullivan Michael J. Dobyns William B. Eccles Michael R [a].

Institution [a] Cancer Genetics Lab., Dep. Biochem., Univ. Otago, P.O. Box 56, Dunedin New Zealand.

Country New Zealand.

Title Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Source Nature Genetics. 9(4). 1995. 358-364.

Year of Publication 1995

Publication Type Article.

ISSN 1061-4036

Concept Codes Genetics and Cytogenetics/Human [03508]; Biochemical Studies/Nucleic Acids, Purines and Pyrimidines [10062]; Biophysics/Molecular Properties and Macromolecules [10506]; Urinary System and External Secretions/Pathology [15506]; Sense Organs, Associated Structures and Functions/Pathology [20006]; Nervous System/Pathology [20506]; Developmental Biology/Embryology-Descriptive Teratology and Teratogenesis; [25552]; Physiology and Biochemistry of Bacteria [31000]

Biosystematic Codes Hominidae [86215]

Languages English.

Abstract Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. We report a single nucleotide deletion in exon five, causing a frame-shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.

Major Concepts Biochemistry and Molecular Biophysics. Development. Genetics. Neurology; (Human Medicine, Medical Sciences). Physiology. Sense Organs (Sensory; Reception). Urology (Human Medicine, Medical Sciences).

Super Taxa Hominidae: Primates, Mammalia, Vertebrata, Chordata, Animalia.

Organisms human (Hominidae).

Taxa Notes animals; chordates; humans; mammals; primates; vertebrates.

Miscellaneous Descriptors HEREDITARY ABNORMALITY.

Update Code 199500.

http://www.niddk.nih.gov/health/kidney/summary/vesico/vesico.htm

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes

http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome010.html