title: [Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene].
abstract: OBJECTIVE
  To investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China.
  
  
  METHODS
  Whole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene.
  
  
  RESULTS
  Forty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients. Three novel mutations, 5+ 2T to A, 14-2A to G and 1825del G, were identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G to A (15+ 5G to A)(5%), L676Q(5%), and N392Y (3.75%). Exon 17 harbored the most types of compound heterozygosity with the IVS7-2A to G mutation.
  
  
  CONCLUSIONS
  A Chinese specific SLC26A4 diversity was found, and comparable SLC26A4 contributing to deafness. This study suggested that if a heterozygous SLC26A4 mutation is found in a patient with deafness, other exons of the SLC26A4 gene should be analyzed. Furthermore, double heterozygosity of the SLC26A4 gene may also account for some of the disease phenotype.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.forename: De-liang
authors.initials: DL
authors.lastname: Huang
authors.forename: Qing-wen
authors.initials: QW
authors.lastname: Zhu
authors.forename: Yong-yi
authors.initials: YY
authors.lastname: Yuan
authors.forename: Ru-ping
authors.initials: RP
authors.lastname: Fang
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051381:Rats; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters