title: [Molecular genetic analysis of SLC26A4 2168A > G mutations in sensorineural hearing loss with unknown reason in Henan province].
abstract: OBJECTIVE
  To survey the etiology of sensorineural hearing loss with unknown reason and the incidence of the mutation of SLC26A4 2168A > G in Henan province.
  
  
  METHODS
  The evaluation of hearing loss, etiologic survey, the molecular genetic analysis and temporal bone CT examination for genes common to hereditary hearing disorders were performed in 95 hearing-impaired patients in Henan province.
  
  
  RESULTS
  In the deafness group, the incidence of large vestibular aqueduct syndrome (LVAS) which correlates with SLC26A4 2168A > G is 6.32%. The incidence of the gene diagnosis conformed to the clinical one is 83.3%.
  
  
  CONCLUSIONS
  There is a high incidence of SLC26A4 2168 A > G mutation in sensorineural hearing loss with unknown reason. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
authors.affiliation: Department of Otolaryngology, Shangqiu First People's Hospital, Shangqiu 450052, China.
authors.forename: Yunhua
authors.initials: Y
authors.lastname: Zhu
authors.forename: Lingling
authors.initials: L
authors.lastname: Neng
authors.forename: Meisheng
authors.initials: M
authors.lastname: Li
authors.forename: Mingmin
authors.initials: M
authors.lastname: Dong
mesh_terms: D001483:Base Sequence; D002681:China / Q000453:epidemiology; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters