De novo deletions in the paired domain of PAX6 in south Indian aniridic patients

J Hum Genet. 2004;49(11):647-649. doi: 10.1007/s10038-004-0200-1. Epub 2004 Oct 8.

Abstract

We analyzed the sequence variation in the coding exons of PAX6 in eight unrelated south Indian pedigrees with one aniridic individual in each family. Mutations were detected by PCR, SSCP and allele-specific cloning followed by sequencing. Here we report two de novo deletion mutations, c.537delA (codon 59) and c.728del14 (codon 122), in the paired domain of PAX6. These deletions probably represent null or hypomorphic alleles consistent with PAX6 haploinsufficiency as the underlying genetic factor of aniridia.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Aniridia / genetics*
  • Base Sequence
  • Cloning, Molecular
  • Eye Proteins
  • Homeodomain Proteins / genetics*
  • Humans
  • India / ethnology
  • Molecular Sequence Data
  • Mutation / genetics*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Repressor Proteins
  • Sequence Analysis, DNA

Substances

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