title: The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
abstract: OBJECTIVE
  To clarify the frequency of TMPRSS3 mutations in the hearing loss population, genetic analysis was performed, and detailed clinical characteristics were collected. Optical intervention for patients with TMPRSS3 mutations was also discussed.
  
  
  METHODS
  Massively parallel DNA sequencing (MPS) was applied for the target exon-sequencing of 63 deafness genes in a population of 1120 Japanese hearing loss patients.
  
  
  RESULTS
  Hearing loss in 5 patients was found to be caused by compound heterozygous TMPRSS3 mutations, and their detailed clinical features were collected and analyzed. Typically, all of the patients showed ski slope type audiograms and progressive hearing loss. Three of the 5 patients received electric acoustic stimulation (EAS), which showed good results. Further, the onset age was found to vary, and there were some correlations between genotype and phenotype (onset age).
  
  
  CONCLUSIONS
  MPS is a powerful tool for the identification of rare causative deafness genes, such as TMPRSS3. The present clinical characteristics not only confirmed the findings from previous studies but also provided clinical evidence that EAS is beneficial for patients possessing TMPRSS3 mutations.
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Maiko
authors.initials: M
authors.lastname: Miyagawa
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Shin-Ya
authors.initials: SY
authors.lastname: Nishio
authors.affiliation: Department of Otorhinolaryngology, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yuika
authors.initials: Y
authors.lastname: Sakurai
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine Matsumoto, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Hattori
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine Matsumoto, Japan.
authors.forename: Keita
authors.initials: K
authors.lastname: Tsukada
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Moteki
authors.affiliation: Department of Otorhinolaryngology, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Kojima
authors.affiliation: 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.forename: Shin-Ichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D000161:Acoustic Stimulation; D000328:Adult; D044466:Asian People / Q000235:genetics; D001301:Audiometry, Pure-Tone; D002150:Caloric Tests; D018389:Codon, Nonsense; D003638:Deafness / Q000235:genetics / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012697:Serine Endopeptidases / Q000235:genetics*; D014722:Vestibule, Labyrinth / Q000503:physiopathology
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human
keywords: DFNB8/10; EAS; TMPRSS3; high-frequency hearing loss; massively parallel DNA sequencing; next generation sequencing