title: Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.
abstract: OBJECTIVE
  Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population.
  
  
  METHODS
  Genetic analysis of 63 previously reported deafness genes based on massively parallel DNA sequencing (MPS) in 1120 Japanese hearing loss patients from 53 otorhinolaryngology departments was performed. Detailed clinical features of the patients with MYO15A mutations were then collected and analyzed.
  
  
  RESULTS
  Eleven patients from 10 families were found to have compound heterozygosity for MYO15A. Audiograms showed profound or high frequency hearing loss, with some patients showing progressive hearing loss. Age at onset was found to vary from 0 to 14 years, which seemed to be associated with the mutation. Four children underwent bilateral cochlear implantation for congenital hearing loss, with all showing good results.
  
  
  CONCLUSIONS
  Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. MPS technology successfully detected mutations in relatively rare deafness genes such as MYO15A.
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Maiko
authors: M
authors: Miyagawa
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Shin-Ya
authors: SY
authors: Nishio
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Mitsuru
authors: M
authors: Hattori
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Hideaki
authors: H
authors: Moteki
authors: Department of Otolaryngology-Head & Neck Surgery, Iwate Medical University, Morioka, Iwate, Japan.
authors: Yumiko
authors: Y
authors: Kobayashi
authors: Department of Otolaryngology-Head & Neck Surgery, Iwate Medical University, Morioka, Iwate, Japan.
authors: Hiroaki
authors: H
authors: Sato
authors: Departments of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors: Tomoo
authors: T
authors: Watanabe
authors: Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan.
authors: Yasushi
authors: Y
authors: Naito
authors: Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors: Chie
authors: C
authors: Oshikawa
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
authors: Shin-Ichi
authors: S
authors: Usami
mesh_terms: D044466:Asian People / Q000235:genetics; D003638:Deafness / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: C485245:MYO15A protein, human; D009218:Myosins
keywords: DFNB3; MYO15A; autosomal recessive hearing loss; cochlear implant; massively parallel DNA sequencing; next generation sequencing