title: Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
abstract: OBJECTIVE
  ACTG1 has been reported to be a causative gene for autosomal dominant sensorineural hearing loss, DFNA20/26. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations.
  
  
  METHODS
  Massively parallel DNA sequencing (MPS) of 63 target candidate genes was used to screen 1120 Japanese hearing loss patients.
  
  
  RESULTS
  MPS screening successfully identified 4 ACTG1 mutations in 5 families. The majority of patients showed high frequency-involved progressive hearing loss, with the age of onset mostly in the first or second decade. One patient received electric acoustic stimulation (EAS), which showed a good outcome.
  
  
  CONCLUSIONS
  Target exon-sequencing using MPS was proven to be a powerful new clinical diagnostic tool for the identification of rare causative genes such as ACTG1. The present clinical findings not only confirmed those previous reports but also provided important new clinical information.
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: Aya
authors: A
authors: Ichinose
authors: Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, Tokyo, Japan.
authors: Satoshi
authors: S
authors: Iwasaki
authors: Department of Otorhinolaryngology, Gunma University School of Medicine, Maebashi, Japan.
authors: Takaaki
authors: T
authors: Murata
authors: Department of Otorhinolaryngology-Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors: Shin-Ichiro
authors: S
authors: Kitajiri
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: D000199:Actins / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods*; D055815:Young Adult
chemical_list: C000594243:ACTG1 protein, human; D000199:Actins
keywords: ACTG1; DFNA20/26; EAS; hearing loss; massively parallel DNA sequencing; next generation sequencing