Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

ABSTRACT:

Purpose

This study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC).

Methods

We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated with MassARRAY and Sanger sequencing. DNA samples from 103 healthy subjects were used as additional controls in the confirmation examination.

Results

By filtering against common variants in public databases and those associated with TC cases, we identified 23 SCC-specific variants in 17 genes from 19 patients, which were predicted to be functional. These mutation

SUBMITTER: Li D 

PROVIDER: S-EPMC4896834 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature