title: Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
abstract: We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.
authors.affiliation: Department of Pediatrics, University of Minnesota School of Medicine, Minneapolis, USA.
authors.forename: L A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: M E
authors.initials: ME
authors.lastname: Pierpont
authors.forename: B L
authors.initials: BL
authors.lastname: Carpenter
authors.forename: C E
authors.initials: CE
authors.lastname: Kashtan
authors.forename: M R
authors.initials: MR
authors.lastname: Johnson
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D003103:Coloboma / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D051762:PAX2 Transcription Factor; D010375:Pedigree; D017384:Sequence Deletion; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014463:Ultrasonography; D014718:Vesico-Ureteral Reflux / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors