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Article

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

PloS one - 1 Jan 2015

Xia Hong, Huang Xiangjun, Guo Yi, Hu Pengzhi, He Guangxiang, Deng Xiong, Xu Hongbo, Yang Zhijian, Deng Hao

Abstract excerpt

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin XVa gene (MYO15A)...

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Identifiers

PMID: 26308726
DOI: 10.1371/journal.pone.0136306
PMCID: PMC4550393

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

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