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

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Abstract
Optic nerve coloboma combined with renal disease, also called renal‐coloboma syndrome (#120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal‐coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico‐ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal‐coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.