Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan.

ABSTRACT:

Objectives

To explore the molecular epidemiology of rare deafness genes in Taiwanese sensorineural hearing impairment (SNHI) patients with cochlear implantation (CI) by performing massive parallel sequencing (MPS) and correlating genetic factors and CI outcomes.

Methods

We enrolled 41 Taiwanese non-syndromic deafness patients with CI that lacked known mutations in common deafness genes. All probands were screened by a targeted exon amplification method that used massively parallel sequencing to screen a customized panel that included 40 relatively rare non-syndromic deafness genes.

Results

Thirteen candidate variants in nine relatively rare deafness genes (MYO15A, TMC1, MYH14, MYO3A, ACTG1, COL11A2, DSPP, GRHL2, and WFS1) were identified in 24.4% (10/41) of the non-sy

SUBMITTER: Liu WH 

PROVIDER: S-EPMC6347456 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature