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Article

NGS-based identification of a MYO7A mutation in a Korean family with DFNB2, a subtype of autosomal recessive non-syndromic hearing loss.

Genes & genomics - 1 Aug 2025

Kim Ye-Ri, Lee Byeonghyeon, Park Hong-Joon, Kwon Tae-Jun, Kim Un-Kyung

Abstract excerpt

BACKGROUND: Hereditary hearing loss (HHL) exhibits considerable genetic heterogeneity. Among the known causative genes, MYO7A is frequently linked to autosomal recessive non-syndromic hearing loss (ARNSHL), contributing to auditory dysfunction through impaired inner ear cellular mechanics. OBJECTIVE: This study aimed to identify the genetic cause of ARNSHL in a Korean family (SR-323) and to assess the...

Read the complete abstract on PubMed

Topics

Humans
Myosin VIIa
Female
Male
Pedigree
Republic of Korea
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Exome Sequencing

Hearing Loss, Sensorineural

High-Throughput Nucleotide Sequencing

Myosins

Source

Identifiers

PMID: 40569347
DOI: 10.1007/s13258-025-01653-8

Genes

MYO7A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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