Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

Abstract

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C4T transition in exon 6. In family F2, the previously described c.718C4T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations.