title: [Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].
abstract: OBJECTIVE
  To investigate the frequencies of SLC26A4 hot spot mutations by genetic testing method in non-syndromic hearing loss children. The feasibility of genetic screening method in finding enlarged vestibular aqueduct syndrome was confirmed by temporal bone CT scan.
  
  
  METHODS
  Ninety-two children with moderate-profound hearing loss were enrolled and DNA were extracted from peripheral blood. SLC26A4 IVS7-2A > G and H723R mutations were analyzed by direct sequencing. The individual with homozygous, compound heterozygous or heterozygous SLC26A4 mutations was given further temporal CT scan.
  
  
  RESULTS
  The sequencing results revealed 11 (12.0%) cases carrying SLC26A4 mutations, including 5 cases of bi-allelic mutation and 6 cases of single allelic mutation.
  
  
  CONCLUSIONS
  The SLC26A4 mutations has a high carrying rate in non-syndromic hearing loss children. The screening for the SLC26A4 gene mutations is useful in the diagnosis of EVAS.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.forename: Ruping
authors.initials: R
authors.lastname: Fang
authors.forename: Yiwen
authors.initials: Y
authors.lastname: You
authors.forename: Yong
authors.initials: Y
authors.lastname: Wang
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D005820:Genetic Testing; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters; D013577:Syndrome; D014723:Vestibular Aqueduct
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters