| First Author | Eccles MR | Year | 1999 |
| Journal | Clin Genet | Volume | 56 |
| Issue | 1 | Pages | 1-9 |
| PubMed ID | 10466411 | Mgi Jnum | J:56640 |
| Mgi Id | MGI:1342134 | Doi | 10.1034/j.1399-0004.1999.560101.x |
| Citation | Eccles MR, et al. (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet 56(1):1-9 |
| abstractText | 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. |
