Journal of Clinical Case Reports

Yumiko Kobayashi

Publications

• 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. .. Read More»
  DOI: 10.4172/2165-7920.1000319

  Abstract PDF