title: Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
abstract: Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.
authors.affiliation: Department of Human Genetics, Jules Stein Eye Institute, Mental Retardation Research Center, UCLA School of Medicine, Los Angeles, CA, USA. las@umn.edu
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: Glenda S
authors.initials: GS
authors.lastname: Manligas
authors.forename: Paul A
authors.initials: PA
authors.lastname: Sieving
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009900:Optic Nerve / Q000002:abnormalities* / Q000473:pathology; D051762:PAX2 Transcription Factor; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors