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.
Original language | English (US) |
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Pages (from-to) | 1-9 |
Number of pages | 9 |
Journal | Clinical Genetics |
Volume | 56 |
Issue number | 1 |
DOIs | |
State | Published - 1999 |
Externally published | Yes |
Keywords
- Hearing loss
- Optic nerve coloboma
- PAX2
- Paired box gene
- Renal anomalies
- Renal-coloboma syndrome
- Vesico-ureteral reflux