title: Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss.
abstract: OBJECTIVE
  To investigate the distribution of GJB6 mutations in Central Chinese population with non-syndromic hearing loss.
  
  
  METHODS
  Totally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region.
  
  
  RESULTS
  The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort.
  
  
  CONCLUSIONS
  The results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population.
authors.affiliation: Department of Pediatrics, Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, 445000 Enshi, Hubei Province, China.
authors.forename: Peiwei
authors.initials: P
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Chen
authors.forename: Siqing
authors.initials: S
authors.lastname: Fu
authors.forename: Guanming
authors.initials: G
authors.lastname: Chen
authors.forename: Jiashu
authors.initials: J
authors.lastname: Dong
mesh_terms: D000293:Adolescent; D017677:Age Distribution; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005820:Genetic Testing / Q000379:methods; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D015995:Prevalence; D012680:Sensitivity and Specificity; D017678:Sex Distribution; D055815:Young Adult
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human