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

Clin Genet. 1999 Jul;56(1):1-9. doi: 10.1034/j.1399-0004.1999.560101.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Animals
  • Coloboma / genetics*
  • DNA-Binding Proteins / genetics*
  • Disease Models, Animal
  • Gene Expression Regulation, Developmental*
  • Humans
  • Kidney Diseases / genetics*
  • Mutation*
  • Optic Nerve Diseases / genetics*
  • PAX2 Transcription Factor
  • Syndrome
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Transcription Factors