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Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Neural plasticity - 1 Jan 2021

Wang Xiao-Hui, Xie Le, Chen Sen, Xu Kai, Bai Xue, Jin Yuan, Qiu Yue, Liu Xiao-Zhou, Sun Yu, Kong Wei-Jia

Abstract excerpt

Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss. Using next-generation sequencing combined with auditory tests, two novel compound heterozygous variants c.2802_2812del/c.5681T>C and c.5681T>C/c.6340G>A in the MYO15A gene were identified in...

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Identifiers

PMID: 34093702
DOI: 10.1155/2021/9957712
PMCID: PMC8140830

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