Renal-coloboma syndrome: Report of a novel PAX2 gene mutation

- PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with at ypical bilateral optic nerve coloboma and congenital renal hypoplasia. - DESIGN: Observational case report and experimental study. - METHODS: Mutational analysis of the PAX2 gene in a family. - RESULTS: A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve colobo ma during ophthalmic examination for cytomegalovirus retinitis. A previousl y unreported mutation in exon 2, delT 602 leading to a prematurely truncate d protein was identified in the child but in neither of her parents, demons trating a de novo mutation or germline mosaicism. - CONCLUSIONS: The causal relationship between PAX2 gene mutations and rena l-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of thes e highly variable disorders. (C) 2001 by Elsevier Science Inc. All rights r eserved.