title: Molecular analysis of SLC26A4 gene in a Chinese deafness family.
abstract: OBJECTIVE
  To identify the pathogenic gene for a non-syndromic hearing loss family.
  
  
  METHODS
  Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.
  
  
  RESULTS
  Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.
  
  
  CONCLUSIONS
  The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
authors.affiliation: National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China.
authors.forename: Hao
authors.initials: H
authors.lastname: Hu
authors.forename: De-sheng
authors.initials: DS
authors.lastname: Liang
authors.forename: Ling-qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: He-ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Jia-hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters