Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.

ABSTRACT:

Purpose

To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital polymorphic cataracts.

Methods

Family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of family members. Candidate genes were amplified using polymerase chain reaction (PCR) and screened for mutations on both strands using bidirectional sequencing.

Results

Affected individuals exhibited variable opacities in the embryonic nucleus, sutures, and peripheral cortical opacities. The phenotype for this family was identified as polymorphic. Direct sequencing revealed a splice site mutation (c.215+1G>A) at the first base of intron 3 of the crystal

SUBMITTER: Yu Y 

PROVIDER: S-EPMC3425576 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature