A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.

ABSTRACT:

Background

Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation.

Methods

A four-generation Chinese family diagnosed with autosomal dominant congenital cataracts and microphthalmia was recruited at the Shengjing Hospital of China Medical University. Genomic DNA was extracted from the peripheral blood of the participants. All coding exons and flanking regions of seven candidate genes (CRYAA, CRYBA4, CRYBB2, CRYGC, GJA8, MAF, and PITX3) were amplified and sequenced. Restriction fragment length polymorphism (RFLP) assays were performed to confirm the candidate causative variant, c.35G > T in the CRYAA gene. We

SUBMITTER: Song Z 

PROVIDER: S-EPMC6194747 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature