Abstract

BackgroundMYH14 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).MethodsIn 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.ResultsFour members of this family were diagnosed as nonsyndromic bilateral sensorineural hearing loss with postlingual onset and progressive impairment. A novel missense variant, c.5417C > A (p.A1806D), in MYH14 in the tail domain of NMH II C was successfully identified as the pathogenic cause in three affected individuals. The family member II-5 was suggested to have noise-induced deafness.ConclusionIn this study, a novel missense mutation, c.5417C > A (p.A1806D), in MYH14 that led to postlingual nonsyndromic autosomal dominant SNHL were identified. The findings broadened the phenotype spectrum of MYH14 and highlighted the combined application of gene capture and Sanger sequencing is an efficient approach to screen pathogenic variants associated with genetic diseases.

Highlights

  • MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss

  • Four members of this Han Chinese family suffered from similar symptoms of tinnitus and hearing loss and presented bilateral and symmetric hearing impairment with postlingual onset and progressive impairment

  • One of the probands in this family was a 30-year-old male suffering from bilateral nonsyndromic hearing impairment that started in his teens and developed progressively

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Summary

Introduction

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). The MYH14 gene, known as nonmuscle heavy chain II C (NMHCII-C), encodes one of the myosin members. In motility processes, such as cytoskeleton rearrangement, organelle translocation and ion channel gating, MYH14 is indicated to play a major role in the directed. The MYH14 gene was reported to be related to peripheral neuropathy, myopathy, hoarseness and hearing loss (PNMHH) [6], and the MYH14 protein is expressed widely within cochlear tissues, such as the organ of Corti, spiral prominence epithelium, stria vascularis, and cochlear duct. The expression of MYH14 in mice and humans is generally higher in adults than in adolescents [4, 10, 11]

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