Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

Genes (Basel). 2021 Oct 15;12(10):1623. doi: 10.3390/genes12101623.


Variants in MYH14 are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants reported to cause hearing loss in various ethnic groups. However, the available information on prevalence, as well as with regard to clinical features, remains fragmentary. In this study, genetic screening for MYH14 variants was carried out using a large series of Japanese hearing-loss patients to reveal more detailed information. Massively parallel DNA sequencing of 68 target candidate genes was applied in 8074 unrelated Japanese hearing-loss patients (including 1336 with ADNSHL) to identify genomic variations responsible for hearing loss. We identified 11 families with 10 variants. The prevalence was found to be 0.14% (11/8074) among all hearing-loss patients and 0.82% (11/1336) among ADNSHL patients. Nine of the eleven variants identified were novel. The patients typically showed late-onset hearing loss arising later than 20 years of age (64.3%, 9/14) along with progressive (92.3%, 12/13), moderate (62.5%, 10/16), and flat-type hearing loss (68.8%, 11/16). We also confirmed progressive hearing loss in serial audiograms. The clinical information revealed by the present study will contribute to further diagnosis and management of MYH14-associated hearing loss.

Keywords: DFNA4; MYH14; late-onset hearing loss; massively parallel DNA sequencing; nonsyndromic hearing loss; postlingual onset hearing loss; progressive hearing loss.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence / genetics
  • Asian People
  • Deafness / genetics*
  • Deafness / physiopathology
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Myosin Heavy Chains / genetics*
  • Myosin Type II / genetics*
  • Pedigree
  • Sequence Analysis, DNA


  • MYH14 protein, human
  • Myosin Type II
  • Myosin Heavy Chains

Supplementary concepts

  • Nonsyndromic Deafness