A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

ABSTRACT:

Purpose

To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts.

Methods

Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation.

Results

Lens examination in the affected members revealed childhood cataracts along with progressive developing fetal nuclear lactescent cataracts with 'Y' sutural opacities, and also progressive developing peripheral cortical opacities. Direct gene sequencing showed a G>A transition at the donor splice site of intron 3 (IVS3+1 G>A) of the βA1/A3-crystallin gene (CRYBA3/A1) in this Chinese autosomal dominant childhood cataract family, and

SUBMITTER: Zhu Y 

PROVIDER: S-EPMC2994768 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature