title: Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
abstract: OBJECTIVE
  To study the distribution characteristics of common mutations in the GJB2, SLC26A4, and mtDNA genes in children with severe or profound sensorineural hearing loss (SNHL) in southwestern China.
  
  
  METHODS
  A total of 1,164 individuals were recruited to screen for the common GJB2, SLC26A4, and mtDNA mutations by microarrays. Subsequencing for the coding region of the GJB2 gene in the samples without the GJB2 hotspot mutations as well as subsequencing for the exon 1 of the TRMU gene in those samples with the mtDNA hotspot mutations was performed by Sanger sequencing. All mutations were analyzed in association with medical imaging.
  
  
  RESULTS
  In this study, 28.43% of all subjects carried mutations. The mutation frequencies in the GJB2, SLC26A4, and mtDNA genes were 17.27%, 7.04%, and 4.12%, respectively. No TRMU mutation was found in the study. The frequency of the mtDNA mutations in the multiethnic minorities was six times that in the Han (11.23% vs. 1.91%; p approaches 0.000) and in the urban group was one-third of that in the suburban group(1.49% vs. 4.47%; p=0.047). The frequency of the GJB2 mutations in urban and suburban groups was 23.38% and 15.99%, respectively (p=0.012). The enlarged vestibular aqueduct (EVA) was the most common inner ear malformation and ∼79.10% of EVA cases were associated with the SLC26A4 mutations.
  
  
  CONCLUSIONS
  More than one-fourth of children with severe or profound SNHL carried the common deafness mutations. The proportions of ethnic minorities and urban subjects could impact the frequency of the GJB2 and mtDNA mutations. The SLC26A4 hotspot mutations are prevalent and correlate strongly with EVA.
authors.affiliation: 1 Department of Otolaryngology and Head and Neck Surgery, The Second Xiangya Hospital, Institute of Otology, Central South University , Changsha, China .
authors.forename: Jie
authors.initials: J
authors.lastname: Qing
authors.forename: Yuan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Ruosha
authors.initials: R
authors.lastname: Lai
authors.forename: Peng
authors.initials: P
authors.lastname: Hu
authors.forename: Yan
authors.initials: Y
authors.lastname: Ding
authors.forename: Weijing
authors.initials: W
authors.lastname: Wu
authors.forename: Zian
authors.initials: Z
authors.lastname: Xiao
authors.forename: Phi T
authors.initials: PT
authors.lastname: Ho
authors.forename: Yuyuan
authors.initials: Y
authors.lastname: Liu
authors.forename: Jia
authors.initials: J
authors.lastname: Liu
authors.forename: Lilin
authors.initials: L
authors.lastname: Du
authors.forename: Denise
authors.initials: D
authors.lastname: Yan
authors.forename: Bradley J
authors.initials: BJ
authors.lastname: Goldstein
authors.forename: Xuezhong
authors.initials: X
authors.lastname: Liu
authors.forename: Dinghua
authors.initials: D
authors.lastname: Xie
mesh_terms: D044466:Asian People / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology / Q000208:ethnology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D015995:Prevalence; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26