title: [SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology].
abstract: OBJECTIVE
  To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient.
  
  
  METHODS
  The core family, consists of the patient and his parents, was recruited. Genomic DNA was extracted from peripheral blood. Mutation analysis was carried out by SNaPshot and next-generation sequencing technology. Mutations in SLC26A4 gene were verified by polymerase chain reaction and direct sequencing.
  
  
  RESULTS
  Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 in SLC26A4 gene were detected in the patient, heterozygous mutation p.V306GfsX24 was detected in the father, heterozygous mutation p.P516PfsX11 was detected in the mother.
  
  
  CONCLUSIONS
  Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 contributed to patient's hearing loss. Next-generation sequencing technology is a useful tool for detecting de novo mutations of deafness genes, and is suitable for clinical application.
authors.affiliation: Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou 215002, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Mao
authors.forename: Xiao-ming
authors.initials: XM
authors.lastname: Wei
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.forename: San-nan
authors.initials: SN
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D000076988:Sulfate Transporters
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters