Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

ABSTRACT:

Purpose

The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts.

Methods

Genomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were screened by whole exome sequencing and then validated by Sanger sequencing.

Results

Eleven candidate variants in seven of the 34 genes were detected by exome sequencing and then confirmed by Sanger sequencing, including two variants predicted to be benign and the other pathogenic mutations. The nine mutations were present in 9 of the 18 (50%) families with congenital cataracts. Of the four families with mutations in the X-linked NHS gene, no other abnormalities were recorded e

SUBMITTER: Sun W 

PROVIDER: S-EPMC4072665 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature