Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations |
| |
Authors: | Michael R Eccles Lisa A Schimmenti |
| |
Affiliation: | Department of Biochemistry, University of Otago, Dunedin, New Zealand. meccles@otago.ac.nz |
| |
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. |
| |
Keywords: | hearing loss optic nerve coloboma paired box gene PAX2 renal anomalies renal-coloboma syndrome vesico-ureteral reflux |
|
|