title: Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
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.
authors.affiliation: Department of Biochemistry, University of Otago, Dunedin, New Zealand. meccles@otago.ac.nz
authors.forename: M R
authors.initials: MR
authors.lastname: Eccles
authors.forename: L A
authors.initials: LA
authors.lastname: Schimmenti
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D003103:Coloboma / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D009154:Mutation; D009901:Optic Nerve Diseases / Q000235:genetics*; D051762:PAX2 Transcription Factor; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors