PAX6 mutations reviewed

Hum Mutat. 1998;11(2):93-108. doi: 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M.


Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia. No locus other than chromosome 11p13 has been implicated in aniridia, and PAX6 is clearly the major, if not only, gene responsible. Twenty-eight percent of identified PAX6 mutations are C-T changes at CpG dinucleotides, 20% are splicing errors, and more than 30% are deletion or insertion events. There is a noticeably elevated level of mutation in the paired domain compared with the rest of the gene. Increased mutation in the homeodomain is accounted for by the hypermutable CpG dinucleotide in codon 240. Very nearly all mutations appear to cause loss of function of the mutant allele, and more than 80% of exonic substitutions result in nonsense codons. In a gene with such extraordinarily high sequence conservation throughout evolution, there are presumed undiscovered missense mutations, these are hypothesized to exist in as-yet unidentified phenotypes.

Publication types

  • Review

MeSH terms

  • Aniridia / genetics
  • Chromosomes, Human, Pair 11 / genetics
  • Codon, Nonsense / genetics
  • Conserved Sequence / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Evolution, Molecular
  • Eye Diseases, Hereditary / genetics*
  • Eye Proteins
  • Homeodomain Proteins*
  • Humans
  • Mutation / genetics
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Phenotype
  • Repressor Proteins
  • Transcription Factors / genetics


  • Codon, Nonsense
  • DNA-Binding Proteins
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins
  • Transcription Factors