title: [Investigation of SLC26A4 mutations associated with inner ear malformations].
abstract: To study the molecular pathogenesis of SLC26A4 mutations associated with inner ear malformations including large vestibular aqueduct syndrome (LVAS), Mondini dysplasia and inner ear malformations but not accompanied with LVAS.
  
  
  
  DNA sample and clinical material were obtained from 14 sporadic LVAS probands, six Mondini dysplasia probands and seven inner ear malformations excluding IVAS probands. SLC26A4 gene mutation was analyzed by direct sequencing for its 20 coding exons. GJB2 gene and also mt12SrRNA were analyzed by direct sequencing.
  
  
  
  In 14 cases of LVAS, two mutations were detected in 12 patients (85.7%, either homozygous or compound heterozygous mutations), and one mutation was found in two patients (14.3%). In six cases of Mondini dysplasia, two mutations were detected in all of patients (100%). No mutation could be found in the seven cases of other inner ear abnormalities not accompanied with LVAS. No pathogenic mutation was detected in all of these 27 probands in GJB2 gene and mt12SrRNA 1555/1494T.
  
  
  
  We have shown that LVAS and Mondini dysplasia closely correlate with SLC26A4 gene. No mutation was detected in seven probands of inner ear malformations not accompanied with LVAS. We should study the molecular pathogenesis of this disease in depth.
authors.affiliation: Department of Otolaryngology, Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.
authors.forename: Qingwen
authors.initials: Q
authors.lastname: Zhu
authors.forename: Wen
authors.initials: W
authors.lastname: Zang
authors.forename: Yongyi
authors.initials: Y
authors.lastname: Yuan
authors.forename: Haixia
authors.initials: H
authors.lastname: Han
authors.forename: Xiqin
authors.initials: X
authors.lastname: Zhang
authors.forename: Xinxia
authors.initials: X
authors.lastname: Jiang
authors.forename: Xiumin
authors.initials: X
authors.lastname: Ren
authors.forename: Caihong
authors.initials: C
authors.lastname: Feng
authors.forename: Hong
authors.initials: H
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins; D007758:Ear, Inner / Q000002:abnormalities*; D005091:Exons; D005260:Female; D016678:Genome; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters; D013577:Syndrome; D014723:Vestibular Aqueduct / Q000002:abnormalities; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26