Renal-coloboma yndrome: report of a novel PAX2 gene mutation

PURPOE: To report a novel poradic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplaia. DEIGN: Obervational cae report and experimental tudy. METHOD: Mutational analyi of the PAX2 gene in a family. REULT: A 9-year-old patient with a hitory of renal tranplantation for congenital renal hypoplaia wa found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegaloviru retiniti. A previouly unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein wa identified in the child but in neither of her parent, demontrating a de novo mutation or germline moaicim. CONCLUION: The caual relationhip between PAX2 gene mutation and renal-coloboma yndrome i further upported by thi novel mutation. Awarene of the ytemic aociation with optic nerve abnormalitie and the ocular finding in yndromic renal dieae will facilitate the management of thee highly variable diorder