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

G. Neetirajan, Jon Martin Collinson, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant, Chandrashekhar Reena, Periasamy Sundaresan

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)647-649
Number of pages2
JournalJournal of Human Genetics
Publication statusPublished - 2004


  • PAX6
  • aniridia
  • allele-specific clones
  • gene
  • mutations

Cite this