title: Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS).
abstract: CONCLUSIONS
  CDH23 mutations and the 1555A>G mitochondrial mutation were identified among our series of electric acoustic stimulation (EAS) patients, confirming that these genes were important in hearing loss with involvement of high frequency. Successful hearing preservation as well as good outcomes from EAS indicated that patients with this combination of mutations are good candidates for EAS.
  
  
  OBJECTIVE
  Screening for gene mutations that possibly cause hearing loss involving high frequency was performed to identify the responsible genes in patients with EAS. In addition to a review of the genetic background of the patients with residual hearing loss, the benefit of EAS for patients with particular gene mutations was evaluated.
  
  
  METHODS
  Eighteen patients (15 late-onset, 3 early-onset) with residual hearing who had received EAS were included in this study. Genetic analysis was performed to identify GJB2, CDH23, SLC26A4, and the 1555 mitochondrial mutations.
  
  
  RESULTS
  Three early-onset patients had CDH23 mutations. One late-onset patient had the 1555 A>G mitochondrial mutation.
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan. usami@shinshu-u.ac.jp
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Usami
authors.forename: Maiko
authors.initials: M
authors.lastname: Miyagawa
authors.forename: Shin-ya
authors.initials: SY
authors.lastname: Nishio
authors.forename: Hideaki
authors.initials: H
authors.lastname: Moteki
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takumi
authors.forename: Mika
authors.initials: M
authors.lastname: Suzuki
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kitano
authors.forename: Satoshi
authors.initials: S
authors.lastname: Iwasaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004599:Electric Stimulation Therapy; D005260:Female; D050259:Genes, Mitochondrial; D034381:Hearing Loss / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: C442480:CDH23 protein, human; D000070585:Cadherin Related Proteins; D015820:Cadherins; D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26