title: Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese.
abstract: OBJECTIVE
  Recently, we identified three novel mutations of the GJB2 gene in Japanese families with autosomal-recessive non-syndromic deafness.1 Seven of 11 mutated chromosomes (63.6%) contained a 233delC allele, suggesting that the 233delC mutation is the most common mutation of the GJB2 gene in the Japanese population. After it was recognized that cochlear implantation (CI) is of benefit to children with prelingual deafness, we have had a number of prelingual pediatric CI patients. Because children carrying the homozygous 233delC mutation show bilateral prelingual profound deafness, they could be enrolled in the CI program at Osaka University Graduate School of Medicine. The purposes of this study were 1) to analyze the occurrence of the GJB2 mutations in our 15 prelingual pediatric CI patients in whom the cause of non-syndromic deafness was unknown, and 2) to evaluate the auditory function and postoperative speech perception with CI of those GJB2-related deaf subjects.
  
  
  METHODS
  Retrospective analysis.
  
  
  METHODS
  Mutation analysis of the GJB2 gene by direct sequencing was performed with genomic DNA from 15 children born profoundly deaf as a result of unknown causes and implanted with CI. Intraoperative electrically evoked auditory brainstem response (EABR) and intra-/postoperative EAP were measured. The speech perception was evaluated with Infants and Toddlers Meaningful Auditory Integration Scale (IT-MAIS).
  
  
  CONCLUSIONS
  We identified 4 CI patients (26.7%) out of 15 children carrying the homozygous 233delC mutation. Intra- and postoperative evaluation of the auditory system revealed almost intact cochlear and retrocochlear auditory function in these 4 patients. Postoperative auditory testing indicates that their speech perception had become significantly higher in comparison with that of other prelingual CI patients. These results suggest that prelingual deaf children carrying the homozygous 233delC mutation of the GJB2 gene can benefit from CI.
authors.affiliation: Department of Otolaryngology and Sensory Organ Surgery, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Matsushiro
authors.forename: Katsumi
authors.initials: K
authors.lastname: Doi
authors.forename: Yuka
authors.initials: Y
authors.lastname: Fuse
authors.forename: Kenichi
authors.initials: K
authors.lastname: Nagai
authors.forename: Koichi
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Takako
authors.initials: T
authors.lastname: Iwaki
authors.forename: Takayuki
authors.initials: T
authors.lastname: Kawashima
authors.forename: Ayako
authors.initials: A
authors.lastname: Sawada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hibino
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kubo
mesh_terms: D001299:Audiometry; D001483:Base Sequence; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007804:Language Development; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012189:Retrospective Studies; D018570:Risk Assessment; D013067:Speech Perception; D016896:Treatment Outcome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26