Mutation screening of crystallin genes in Chinese families with congenital cataracts.

ABSTRACT:

Purpose

To identify mutations in crystallin genes in Chinese families with congenital cataracts.

Methods

Forty-two unrelated families with non-syndromic congenital cataracts were enrolled in this study. The coding exons and adjacent intronic regions of crystallin genes, including CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD and CRYGS, were analyzed with Sanger sequencing. Novel variants were further evaluated in 112 ethnically matched controls. To confirm the novel mutations, short tandem repeat (STR) haplotypes were constructed to check the cosegregation with congenital cataract. The pathogenic potential of the novel mutations were assessed using bioinformatics tools, including Sorting Intolerant From Tolerant v5.1.1 (SIFT), Polymorphism

SUBMITTER: Zhuang J 

PROVIDER: S-EPMC6707615 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature