Background: Many mutations in PAX6, a member of a family of genes essential for normal development, have been described. We carried out a study to identify the mutation in PAX6 responsible for aniridia, an autosomal dominant disorder, in a kindred from Atlantic Canada.
Methods: Polymerase chain reaction amplification of coding exons, single-strand conformation polymorphism analysis and DNA sequencing.
Results: A novel deletion of an adenosine residue at position 1030 (1030delA) was detected.
Interpretation: The mutation responsible for aniridia in this kindred is expected to cause a frameshift in the PAX6 coding sequence and truncation of the homeodomain, which is essential for the function of the pax6 protein.