Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

Nat Genet. 1994 Feb;6(2):168-73. doi: 10.1038/ng0294-168.


Mutation or deletion of the PAX6 gene underlies many cases of aniridia. Three lines of evidence now converge to implicate PAX6 more widely in anterior segment malformations including Peters' anomaly. First, a child with Peters' anomaly is deleted for one copy of PAX6. Second, affected members of a family with dominantly inherited anterior segment malformations, including Peters' anomaly are heterozygous for an R26G mutation in the PAX6 paired box. Third, a proportion of Sey/+ Smalleye mice, heterozygous for a nonsense mutation in murine Pax-6, have an ocular phenotype resembling Peters' anomaly. We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Anterior Eye Segment / abnormalities*
  • Base Sequence
  • Cell Line, Transformed
  • Chromosomes, Human, Pair 11*
  • Corneal Opacity / genetics*
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Eye Proteins
  • Female
  • Gene Deletion*
  • Homeodomain Proteins*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Mice
  • Molecular Sequence Data
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pedigree
  • Phenotype
  • Point Mutation / genetics*
  • RNA, Messenger / analysis
  • Repressor Proteins
  • Transcription, Genetic


  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Pax6 protein, mouse
  • RNA, Messenger
  • Repressor Proteins