title: Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness.
abstract: OBJECTIVE
  To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness.
  
  
  METHODS
  Seven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing.
  
  
  RESULTS
  Bi-allelic mutations in SLC26A4, including p.N392Y/p.N392Y, p.S57X/p.S57X and p.Q413R/p.L676Q, were detected in three families as the pathogenic causes for the deafness. No mutations were identified in GJB2 and MT-RNR1.
  
  
  CONCLUSIONS
  Mutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Zhen-tao
authors.initials: ZT
authors.lastname: Wang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Dong-ye
authors.initials: DY
authors.lastname: Chen
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Yong-chuan
authors.initials: YC
authors.lastname: Chai
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Xiu-hong
authors.initials: XH
authors.lastname: Pang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Lian-hua
authors.initials: LH
authors.lastname: Sun
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
authors.forename: Xiao-wen
authors.initials: XW
authors.lastname: Wang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China. Electronic address: yangtfxl@sina.com.
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China. Electronic address: wuhao622@sina.cn.
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005190:Family; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008928:Mitochondria / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: Consanguineous marriage; Deafness; Mutation; SLC26A4; Uyghur