Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment

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• 作者：Ronggui Qu^a ; ^b ; Qing Sang^a ; ^b ; Yao Xu^a ; ^b ; Ruizhi Feng^a ; ^b ; Li Jin^a ; Lin He^b ; ^c ; Lei Wang^a ; ^b ; ^{wangleiwanglei@fudan.edu.cn" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Congenital non-syndromic autosomal recessive deafness ; Missense mutation ; Myosin IIIA ; Target sequencing
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：84
• 期：Complete
• 页码：43-47
• 全文大小：1111 K

文摘

Hearing loss is a common sensory impairment. Several genetic loci or genes responsible for non-syndrome hearing loss have been identified, including the well-known deafness genes GJB2, MT-RNR1 and SLC26A4. MYO3A belongs to the myosin superfamily. Previously only three mutations in this gene have been found in an Isreali family with DFNB30, in which patients demonstrated progressive hearing loss.

Methods

10">In this study, we characterized a consanguineous Kazakh family with congenital hearing loss. By targeted sequence capture and next-generation sequencing, we identified a homozygous mutation and did bioinformatics analysis to this mutation.

Results

15">A homozygous mutation, MYO3A:c.1841C>T (p.S614F), was identified to be responsible for the disease. Ser614 is located in the motor domain of MYO3A that is highly conserved among different species. Molecular modeling predicts that the conserved Ser614 may play an important role in maintaining the stability of β-sheet and the interaction between neighboring β-strand.

Conclusions

This is the second report on MYO3A mutations in deafness and the first report in China. The finding help facilitate establishing a better relationship between MYO3A mutation and hearing phenotypes.