Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.

ABSTRACT:

Background

Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next-generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for population genetic studies of HL. Here, we analyzed clinical and molecular data from 21 Chinese deaf families who did not have hotspot mutations in the common deafness genes GJB2, SLC26A4, GJB3, and MT-RNR1.

Method

Targeted next-generation sequencing (TGS) of 127 known deafness genes was performed in probands of 12 families, while whole-exome sequencing (WES) or trio-WES was used for the remaining nine families.

Results

Potential pathogenic mutations in a total of 12 deafness genes were identified in 13 probands; the mutat

SUBMITTER: Xiang YB 

PROVIDER: S-EPMC7767562 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature