title: Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
abstract: OBJECTIVE
  GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation.
  
  
  METHODS
  The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation.
  
  
  RESULTS
  Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c.235delC, c.299delAT, c.176del16, p.E47X, p.T123N, p.V167M, p.C218Y, p.T86R, p.V63L and p.R184Q), 3 polymorphisms (p.V27I, p.E114 G and p.I203 T) and 2 unidentified mutations (p.V37I and c.571 T > C).
  
  
  CONCLUSIONS
  A total of 103 patients (31.2 per cent) carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. The two novel mutations identified, 69C > G and 501G > A, are likely to be polymorphisms.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery,Drum Tower Hospital of Nanjing University Medical School,China.
authors.forename: L
authors.initials: L
authors.lastname: Shi
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery,Drum Tower Hospital of Nanjing University Medical School,China.
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery,Drum Tower Hospital of Nanjing University Medical School,China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery,Drum Tower Hospital of Nanjing University Medical School,China.
authors.forename: X
authors.initials: X
authors.lastname: Wei
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery,Drum Tower Hospital of Nanjing University Medical School,China.
authors.forename: X
authors.initials: X
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D019929:Cochlear Implantation; D000072259:Connexin 26; D017630:Connexins / Q000097:blood*; D003638:Deafness / Q000235:genetics* / Q000601:surgery; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords:  Human; Cochlear Implant; Deafness; GJB2 Protein; Mutations