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Updated: Aug 24, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Heterozygous MYH9 Mutations in 2 Children With Cochlear Nerve Canal Stenosis

Wenqi Liang1, Line Wang1, Wenrui Zheng1

  • 1Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Ear, Nose, & Throat Journal
|October 25, 2022
PubMed

Insights

Mutations in the MYH9 gene are linked to bony cochlear nerve canal stenosis (CNCS) and profound congenital hearing loss. This finding highlights a crucial genotype-phenotype association for managing hearing impairments.

Area of Science:

  • Genetics
  • Otolaryngology
  • Radiology

Background:

  • The MYH9 gene encodes a myosin heavy chain IIA protein subunit.
  • MYH9 mutations are associated with hematologic, renal, and auditory conditions.
  • Bony cochlear nerve canal stenosis (CNCS) on CT imaging is linked to congenital deafness and inner ear anomalies.

Purpose of the Study:

  • To report two cases of CNCS with profound congenital hearing loss.
  • To identify MYH9 gene mutations in these patients.
  • To discuss the genotype-phenotype correlation and management implications.

Main Methods:

  • Clinical case reporting.
  • Genetic mutation analysis.
  • Computed tomography (CT) imaging for CNCS diagnosis.

Main Results:

  • Two patients presented with CNCS and profound congenital hearing loss.
  • MYH9 gene mutations were identified in both cases.
  • Established a link between MYH9 mutations, CNCS, and congenital hearing loss.

Conclusions:

  • MYH9 mutations are associated with bony cochlear nerve canal stenosis and profound congenital hearing loss.
  • Understanding this genotype-phenotype relationship is vital for diagnosis and management.
  • Further research into MYH9-related auditory dysfunction is warranted.

Keywords:
MYH9cochlear implantcochlear nerve canal stenosiscongenital hearing loss

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