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Article

A Novel Mutation Located in the N-Terminal Domain of MYO15A Caused Sensorineural Hearing Loss.

Molecular genetics & genomic medicine - 1 Dec 2024

Wang Yanli, Liu Zengping, Li Yong, Nie Zhipeng, Xu Baicheng, Zhu Yiming, Duan Shihong, Chen Xingjian, Tan Huan, Dang Jiong, Guan Minxin, Guo Yufen

Abstract excerpt

BACKGROUND: MYO15A is one of the common genes of severe-to-profound sensorineural deafness. Mutations in this gene can cause both pre- and post-lingual hearing losses. In this study, a novel MYO15A variant (c.2482C>T) was identified to be associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Chinese Uighur family. METHODS: To examine the effects of the MYO15A mutation on the morphology and...

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Identifiers

PMID: 39620501
DOI: 10.1002/mgg3.70042
PMCID: PMC11609997

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