Three novel PAX6 mutations in patients with aniridia

Mol Pathol. 2003 Jun;56(3):180-3. doi: 10.1136/mp.56.3.180.

Abstract

Aims: To describe mutations in the PAX6 gene in five patients with aniridia from three unrelated families.

Methods: The PAX6 gene was analysed using single stranded conformational polymorphism analysis and direct sequencing.

Results: In one family, three individuals from two generations had aniridia, whereas in each of the other families only one member was affected. The first patient had the heterozygous Q221X (1023C --> T) nonsense mutation in exon 8. The same mutation was found in his mother and sister. Another patient had a heterozygous Q297X (1252C --> T) mutation in exon 10. The third patient carried a heterozygous IVS5+2T --> C mutation leading to aberrant splicing of mRNA.

Conclusions: These findings provide further examples of haploinsufficiency of PAX6 in aniridia.

MeSH terms

  • Aniridia / genetics*
  • Base Sequence
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Polymorphism, Single-Stranded Conformational
  • Repressor Proteins

Substances

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