A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

ABSTRACT:

Objective

The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts.

Methods

Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products.

Results

The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding re

SUBMITTER: Zhai Y 

PROVIDER: S-EPMC3894400 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature