A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.

ABSTRACT:

Purpose

Cataracts are the most common cause of blindness worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report a novel mutation in the paired-like homeodomain 3 (PITX3) gene segregating in a four generation English family with an isolated autosomal dominant posterior polar cataract.

Methods

A genome-wide linkage was performed by means of single nucleotide polymorphism (SNP) and microsatellite markers. Linkage analyses were performed with the GeneHunter and MLINK programs. Direct sequencing of PCR products was performed to detect mutation in the gene, using the BigDye version 3.1 and analyzed using Sequence analysis version 5.2.

Results

Genome-wide linkage analysis with SNP markers, identified a disease-haplotype interval o

SUBMITTER: Berry V 

PROVIDER: S-EPMC3103741 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature