title: Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.
abstract: CONCLUSIONS
  GJB2 mutation was frequent in sporadic outpatients and its mutation frequency was significant higher in the prelingual group than in the postlingual group, whereas the mutation of mtDNA A1555G and SLC26A4 was very rare in Chinese sporadic outpatients with nonsyndromic sensorineural hearing loss (NSHL). Standard and comprehensive inclusion and grouping criteria are necessary for epidemiological studies of deafness-related gene mutations.
  
  
  OBJECTIVE
  This study aimed to examine the mutations of the three common deafness genes GJB2, SLC26A4, and mtDNA A1555G in Chinese sporadic outpatients with NSHL and to discuss the factors that influence the detection accuracy of mutation frequencies.
  
  
  METHODS
  A total of 473 sporadic NSHL patients without any type of inner ear malformation, including both prelingual and postlingual groups were enrolled in this study. Three genes of mtDNA A1555G, GJB2, and SLC26A4 were screened for mutation in our study cohort. A chi-square test was performed to compare mutation frequencies between prelingual and postlingual groups.
  
  
  RESULTS
  The mutation frequencies of MtDNA A1555G, GJB2, and SLC26A4 were 1.63%, 13.63%, and 0%, respectively, in our study cohort. The mutational hot spot of GJB2 was c.235delC, whose allele frequency was 12.68% in sporadic outpatients. Mutation frequency of GJB2 in the prelingual group was significantly higher than in the postlingual group (p < 0.05).
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
authors.forename: Yu-bin
authors.initials: YB
authors.lastname: Ji
authors.forename: Dong-Yi
authors.initials: DY
authors.lastname: Han
authors.forename: Lan
authors.initials: L
authors.lastname: Lan
authors.forename: Da-Yong
authors.initials: DY
authors.lastname: Wang
authors.forename: Liang
authors.initials: L
authors.lastname: Zong
authors.forename: Fei-Fan
authors.initials: FF
authors.lastname: Zhao
authors.forename: Qiong
authors.initials: Q
authors.lastname: Liu
authors.forename: Cindy
authors.initials: C
authors.lastname: Benedict-Alderfer
authors.forename: Qing-yin
authors.initials: QY
authors.lastname: Zheng
authors.forename: Qiu-Ju
authors.initials: QJ
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000553:Ambulatory Care; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D017720:Molecular Epidemiology; D009154:Mutation / Q000235:genetics; D012335:RNA, Ribosomal / Q000235:genetics*; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26