title: [Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].
abstract: OBJECTIVE
  To analyze the positive rate of common genetic mutations in Chinese non-syndromic sensorineural hearing loss groups with different hearing phenotype.
  
  
  METHODS
  One thousand four hundred and forty-eight subjects with hearing test results received at least one of three genetic testings including: mutations in coding region of GJB2 and SLC26A4 with sequencing analysis and mitochondrial DNA C1494T/A1555G with microarray detection. Of 1448 subjects, 1333 have bilateral sensorineural hearing loss, 65 have unilateral hearing loss and 50 have normal hearing threshold even though they have high frequency hearing loss or family history. The informed consent of each subject was achieved.
  
  
  RESULTS
  Mutation positive rate of GJB2, SLC26A4 and mtDNA C1494T/ A1555G of 1448 subjects were 19.23%, 27.55%, 0.1% and 1.72% respectively. The positive rate of GJB2 and SLC26A4 mutations in bilateral hearing loss group (20.22%, 29.17%) was statistically significantly higher than unilateral group (0, 0) (P < 0.01). In bilateral hearing loss group, the positive rate of GJB2 mutations was highest in the profound group (24.67%), and then severe (22.33%), moderate (14.33%) and mild group (6.58%) (P < 0.01). The positive rate of SLC26A4 mutations was highest in the severe group (48.67%), and then profound (28.42%), moderate (21.16%) and mild (8.93%) (P < 0.01).
  
  
  CONCLUSIONS
  The positive rate of GJB2 and SLC26A4 mutations is high in the groups with bilateral profound and severe sensorineural hearing loss, whose genetic testing should be put emphasis on. However, the genetic testing should be performed in patients with mild to moderate hearing impairment as well if necessary.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, PLA General Hospital, Beijing, 100853, China.
authors.forename: Guojian
authors.initials: G
authors.lastname: Wang
authors.forename: Yongyi
authors.initials: Y
authors.lastname: Yuan
authors.forename: Rong
authors.initials: R
authors.lastname: Li
authors.forename: Mingyu
authors.initials: M
authors.lastname: Han
authors.forename: Shasha
authors.initials: S
authors.lastname: Huang
authors.forename: Dongyang
authors.initials: D
authors.lastname: Kang
authors.forename: Xin
authors.initials: X
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Dong
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
authors.forename: Dongyi
authors.initials: D
authors.lastname: Han
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000235:genetics; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006316:Hearing Loss, High-Frequency / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D046088:Hearing Loss, Unilateral / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D000076988:Sulfate Transporters; D055815:Young Adult
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