alexa A Novel Mutation of MYO15A Associated with Hearing Loss
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report

A Novel Mutation of MYO15A Associated with Hearing Loss in a Japanese Family

Takuya Yano1, Aya Ichinose1, Shin-ya Nishio1, Yumiko Kobayashi2, Hiroaki Sato2 and Shin-ichi Usami1*
1Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621 Japan
2Department of Otorhinolaryngology, Iwate Medical University 19-1 Uchimaru, Morioka, Iwate, 020-8505 Japan
Corresponding Author : Shin-ichi Usami
Department of Otorhinolaryngology
Shinshu University School of Medicine
3-1-1 Asahi, Matsumoto 390-8621, Japan
Tel: +81-263-37-2666
Fax: +81-263-36-9164
E-mail: [email protected]
Received July 13, 2013; Accepted November 28, 2013; Published November 30, 2013
Citation: Yano T, Ichinose A, Nishio S, Kobayashi Y, Sato H, et al. (2013) A Novel Mutation of MYO15A Associated with Hearing Loss in a Japanese Family. J Clin Case Rep 3:319. doi:10.4172/2165-7920.1000319
Copyright: © 2013 Yano T, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
 

Abstract

Mutations in the MYO15A gene located on chromosome 17 p11.2, are responsible for non-syndromic autosomal recessive profound hearing loss (DFNB3). Direct sequencing of 96 Japanese families with profound congenital hearing loss revealed one family with a novel homozygous mutation in MYO15A, a T to A transition at the nucleotide of 9413 (c.9413T>A) that encodes the MyTh4 domain of the protein (p. L3138Q). This is the first report of an East Asian hearing loss patient with a MYO15A mutation.

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