title: Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.
abstract: OBJECTIVE
  Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling.
  
  
  METHODS
  Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family.
  
  
  RESULTS
  We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance.
  
  
  CONCLUSIONS
  Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling.
authors.affiliation: Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
authors.forename: Kaitian
authors.initials: K
authors.lastname: Chen
authors.affiliation: Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China; Department of Otorhinolaryngology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou 510260, PR China.
authors.forename: Ling
authors.initials: L
authors.lastname: Zong
authors.affiliation: Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Zhan
authors.affiliation: Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Wu
authors.affiliation: Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China.
authors.forename: Min
authors.initials: M
authors.lastname: Liu
authors.affiliation: Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, PR China. Electronic address: jhongy@mail.sysu.edu.cn.
authors.forename: Hongyan
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D055757:SOXE Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors
keywords: Genetic counseling; Hearing impairment; Nonsense-mediated mRNA decay; SOX10 mutation; Waardenburg syndrome