临床病例报告杂志

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

Abstract

Takuya 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.