Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

ABSTRACT:

Background

Patient genetic heterogeneity renders it difficult to discover disease-cause genes. Whole-exome sequencing is a powerful new strategy that can be used to this end. The purpose of the present study was to identify a hitherto unknown mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) in Korean families.

Methods

We performed whole-exome sequencing in 16 individuals from 13 unrelated small families with ARNSHL. After filtering out population-specific polymorphisms, we focused on known deafness genes. Pathogenic effects of the detected mutations on protein structure or function were predicted via in silico analysis.

Results

We identified compound heterozygous CDH23 mutations in hearing-loss genes of two families. These include two previously

SUBMITTER: Woo HM 

PROVIDER: S-EPMC4036425 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature