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Journal of Translational Medicine
Published in: Journal of Translational Medicine 1/2013

Open Access 01-12-2013 | Research

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Authors: Xue Gao, Qing-yan Zhu, Yue-Shuai Song, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Sha-Sha Huang, Dong-Yang Kang, Ming-Yu Han, Li-ping Guan, Jian-guo Zhang, Pu Dai

Published in: Journal of Translational Medicine | Issue 1/2013

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Abstract

Background

Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis.

Methods

By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis.

Results

We identified MYO15A c.IVS25 + 3G > A and c.8375 T > C (p.V2792A) as the disease-causing mutations. Both mutations co-segregated with hearing loss in family 4794, but were absent in the 56 index patients and 108 ethnicity-matched controls.

Conclusions

Our results demonstrated that the hearing loss of family 4794 was caused by novel compound heterozygous mutations in MYO15A.
Appendix
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Metadata
Title
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Authors
Xue Gao
Qing-yan Zhu
Yue-Shuai Song
Guo-Jian Wang
Yong-Yi Yuan
Feng Xin
Sha-Sha Huang
Dong-Yang Kang
Ming-Yu Han
Li-ping Guan
Jian-guo Zhang
Pu Dai
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Journal of Translational Medicine / Issue 1/2013
Electronic ISSN: 1479-5876
DOI
https://doi.org/10.1186/1479-5876-11-284

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