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Updated: Aug 24, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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.
Abstract:
MYH9 is a gene that encodes for a subunit of the myosin heavy chain IIA protein. Mutations in MYH9 are associated with hematologic abnormalities, renal dysfunction, and hearing loss. Bony cochlear nerve canal stenosis (CNCS), which is diagnosed on computed tomography (CT) imaging, has been associated with congenital deafness, cochlear nerve aplasia/hypoplasia, and inner ear malformations. We report two cases of CNCS presenting with profound congenital hearing loss whom we diagnosed with mutations in MYH9 and discuss the genotype-phenotype association and implications for management.
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