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

Optic nerve coloboma combined with renal disease, also called renal-colobom a syndrome (#120330 in McKusick's Mendelian inheritance in Man Online, OMIM ), a relatively recently characterized syndrome, results from autosomal dom inant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ur eteral reflux (VUR), high frequency hearing loss, central nervous system (C NS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical featu res of patients with renal-coloboma syndrome and PAX2 mutation. We also rev iew the PAX2 mutations that have been reported to date, and discuss the pos sible effect of PAX2 mutations on normal development.