A mutation in the RIEG1 gene associated with Peters' anomaly

J Med Genet. 1999 Feb;36(2):152-5.

Abstract

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly.

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 4 / genetics*
  • DNA-Binding Proteins / genetics
  • Eye Abnormalities / genetics*
  • Eye Proteins
  • Female
  • Genes, Homeobox*
  • Homeodomain Proteins / genetics*
  • Humans
  • Nuclear Proteins*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Repressor Proteins
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins
  • Transcription Factors
  • homeobox protein PITX1
  • homeobox protein PITX3
  • homeobox protein PITX2