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Article

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.

BMC medical genetics - 27 Feb 2018

Chang Mun Young, Lee Chung, Han Jin Hee, Kim Min Young, Park Hye-Rim, Kim Nayoung, Park Woong-Yang, Oh Doo Yi, Choi Byung Yoon

Abstract excerpt

BACKGROUND: MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in early childhood. Recently, such variants have also been shown to possibly cause moderate-to-severe hearing loss. Herein, we also demonstrate that some MYO15A mutant alleles can cause...

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Identifiers

PMID: 29482514
DOI: 10.1186/s12881-018-0541-9
PMCID: PMC6389081

Genes

TES

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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