The PITX3 gene in posterior polar congenital cataract in Australia

Abstract

Purpose: Congenital cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract. Methods: A genome wide scan was conducted in a large multigenerational family with autosomal dominant cataract to identify the linked region of the genome. The PITX3 gene was investigated through direct sequencing and detection of fluorescently labeled PCR products. Results: Linkage was detected to a region of chromosome 10q23-26 which contains the candidate gene PITX3. A segregating 17 bp insertion mutation was identified. This mutation was..