A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

ABSTRACT:

Background

MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deafness-4A (DFNA4).

Methods

In this study, we examined a four-generation Han Chinese family with nonsyndromic hearing loss. Targeted next-generation sequencing of deafness genes was employed to identify the pathogenic variant. Sanger sequencing and PCR-RFLP analysis were performed in affected members of this family and 200 normal controls to further confirm the mutation.

Results

Four members of this family were diagnosed as nonsyndromic bilateral sensorineural hearing loss with postlingual onset and progressive impairment. A novel missense variant, c.5417

SUBMITTER: Wang M 

PROVIDER: S-EPMC7382048 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature