Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies

L. A. Schimmenti, M. E. Pierpont, B. L.M. Carpenter, C. E. Kashtan, M. R. Johnson, W. B. Dobyns

Research output: Contribution to journalArticle

58 Scopus citations

Abstract

We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.

Original languageEnglish (US)
Pages (from-to)204-208
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume59
Issue number2
DOIs
StatePublished - Nov 20 1995

Keywords

  • PAX2
  • autosomal dominant inheritance
  • coloboma
  • coloboma-ureteral-renal
  • high frequency hearing loss
  • optic nerve
  • renal anomalies
  • vesicoureteral reflux

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