J Med Genet 32:488-489 doi:10.1136/jmg.32.6.488
  • Research Article

A new PAX6 mutation in familial aniridia.

  1. I Hanson,
  2. A Brown,
  3. V van Heyningen
  1. MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.


      Aniridia (lack of iris) is caused by loss of function mutations in one copy of the PAX6 gene. Here we present a new PAX6 splice mutation in a family with autosomal dominant aniridia. The mutation is a single nucleotide change which, although occurring within an exon, affects the splice junction consensus and results in skipping of that exon.