A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

ABSTRACT:

Purpose

To identify the genetic cause responsible for the autosomal dominant hereditary cataract in a Chinese family.

Methods

A whole family of a proband who has a dominant congenital pulverulent nuclear cataract was recruited into Zhongnan Hospital. The lenses of patients were observed by a slit-lamp microscope, and the lenses of the proband's mother were analyzed by scanning electron microscopy. Mutation screening was performed in the cataract candidate genes coding for crystallins and connexin 50 by sequencing of polymerase chain reaction (PCR) products amplified from blood leukocyte DNA samples of eight family members. The identified mutation was then investigated in other participated family members, 200 normal controls, and 40 senile cataract patients by the restrictio

SUBMITTER: Yan M 

PROVIDER: S-EPMC2268715 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature