3-1-1 Asahi, Matsumoto 390-8621
Japan
Case Report
A Novel Mutation of MYO15A Associated with Hearing Loss in a Japanese
Family
Author(s): Takuya Yano, Aya Ichinose, Shin-ya Nishio, Yumiko Kobayashi, Hiroaki Sato and Shin-ichi UsamiTakuya Yano, Aya Ichinose, Shin-ya Nishio, Yumiko Kobayashi, Hiroaki Sato and Shin-ichi Usami
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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DOI:
10.4172/2165-7920.1000319
Journal of Clinical Case Reports received 1295 citations as per Google Scholar report