title: [Mutations of GJB2 gene in infants with non-syndromic hearing impairment].
abstract: OBJECTIVE
  To explore the relationship between GJB2 gene mutations and severe-to-profound bilateral non-syndromic hearing impairment (NSHI).
  
  
  METHODS
  Peripheral blood was collected from 20 infants with severe-to-profound bilateral NSHI confirmed by otoacoustic emissions (OAE), auditory brainstem responses (ABR) and clinical physical examination, 11 male and 9 female, aged 3 months to 3 years. PCR and sequencing technique were used to analyze the coding region of GJB2 gene. Fifty persons with normal hearing, 25 males and 25 female, aged 20 approximately 50, all without family history of hearing impairment, were used as controls.
  
  
  RESULTS
  Three infants (15%) were identified as 235delC/235delC homozygotes; one infant was identified as 235delC/299-300delAT compound heterozygote; one was identified as 235delC heterozygote; and one as 235delC/605ins46 compound heterozygote with 605ins46 mutation, a novel mutation reported in Chinese for the first time. GJB2 gene mutations were found in 5 NSHI infants (25%). The allelic frequency of 235delC allele was 22.5% in the NSHI infants and 1% in the control group (P < 0.01). Besides, multiple polymorphisms such as V27I, V37I, E114G, T123N were found in both the patients and controls.
  
  
  CONCLUSIONS
  GJB2 analysis is an important test for infants with severe-to-profound bilateral NSHI. 235delC is the main pathogenic mutation site in GJB2 gene.
authors.affiliation: Department of Forensic Medicine, Shantou University Medical College, Shantou 515041, China.
authors.forename: Gui-Zhi
authors.initials: GZ
authors.lastname: Shi
authors.forename: Lu-Xia
authors.initials: LX
authors.lastname: Gong
authors.forename: Wen-Ying
authors.initials: WY
authors.lastname: Nie
authors.forename: Qian
authors.initials: Q
authors.lastname: Lin
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Xiang
authors.forename: Xiao-Hu
authors.initials: XH
authors.lastname: Xu
authors.forename: Yi-Sheng
authors.initials: YS
authors.lastname: Qi
mesh_terms: D000328:Adult; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26