A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.

ABSTRACT:

Purpose

To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract.

Methods

All patients underwent full ophthalmic examination. For mutation analysis, a partial coding region (exons 5-14) of paired box gene 6 (PAX6) was sequenced with DNA from the proband. Single-strand conformation polymorphism analysis for exon 5 of PAX6 was performed to demonstrate co-segregation of the PAX6 mutation with aniridia in all family members and the absence of the mutation in the normal controls.

Results

The proband and other patients in the family were affected with aniridia accompanied with congenital cataract. A novel heterozygous PAX6 mutation in exon 5 (c.475_491del17, p.Arg38ProfsX12) was identified, which was pre

SUBMITTER: Cai F 

PROVIDER: S-EPMC2901194 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature