title: Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
abstract: OBJECTIVE
  We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4).
  
  
  METHODS
  Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients.
  
  
  RESULTS
  The two WS4 cases presented with high phenotypic variability. Two novel heterozygous mutations (c.254G>A and c.698-2A>T) in the SOX10 gene were detected. The mutations identified in the patients were not found in unaffected family members or in 200 unrelated control subjects.
  
  
  CONCLUSIONS
  This is the first report of WS4 in Chinese patients. In addition, two novel mutations in SOX10 gene have been identified.
authors.affiliation: Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Jiang
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Chen
authors.forename: Wen
authors.initials: W
authors.lastname: Jiang
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Lingyun
authors.initials: L
authors.lastname: Mei
authors.forename: Jingjie
authors.initials: J
authors.lastname: Xue
authors.forename: Chufeng
authors.initials: C
authors.lastname: He
authors.forename: Yalan
authors.initials: Y
authors.lastname: Liu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002648:Child; D005260:Female; D006627:Hirschsprung Disease; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D055757:SOXE Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors