Mutation profiles of congenital cataract genes in 21 northern Chinese families.

ABSTRACT:

Purpose

To identify disease-causing gene mutations in 21 northern Chinese families with congenital cataracts.

Methods

Medical record collection and ophthalmologic examinations were conducted for 21 families with congenital cataracts. A volume of 5 ml of peripheral blood was drawn from each participant for genomic DNA isolation. Thirty-four known candidate genes for congenital cataracts were analyzed in the probands of 21 families with targeted next-generation sequencing (NGS). Bioinformatics analysis of the sequence variants was performed through computational predictive programs. Sanger sequencing was used to perform the cosegregation analysis. Genotyping and haplotype analyses were performed in two patients with a p.V44M mutation in the GJA8 gene.

Results

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SUBMITTER: Zhang XH 

PROVIDER: S-EPMC6054834 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature