title: Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.
abstract: OBJECTIVE
  Waardenburg syndrome is a rare genetic disorder, characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Four subtypes have been classified. The present study aimed to analyze the clinical feature and investigate the genetic cause for a Chinese case of Waardenburg type IV (WS4).
  
  
  METHODS
  The patient and his family members were subjected to mutation detection in the candidate gene SOX10 by Sanger sequencing.
  
  
  RESULTS
  The patient has the clinical features of WS4, including sensorineural hearing loss, bright blue irides, premature graying of the hair and Hirschsprung disease. A novel heterozygous frameshift mutation, c.752_753ins7 (p.Gly252Alafs*31) in the exon 5 of SOX10 was detected in the patient, but not found in the unaffected family members and 100 normal controls. This mutation results in a premature stop codon 31 amino acid downstream.
  
  
  CONCLUSIONS
  The novel mutation c.752_753ins7 (p.Gly252Alafs*31) arose de novo and was considered as the cause of WS4 in the proband. This study further characterized the molecular complexity of WS4 and provided a clinical case for genotype-phenotype correlation studies of different phenotypes caused by SOX10 mutations.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Capital Medical University, Beijing Tongren Hospital, Beijing 100730, China.
authors.forename: Fenghe
authors.initials: F
authors.lastname: Liang
authors.affiliation: China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China.
authors.forename: Min
authors.initials: M
authors.lastname: Zhao
authors.affiliation: University of Miami, Miami, FL 33136, USA.
authors.forename: Lynn
authors.initials: L
authors.lastname: Fan
authors.affiliation: China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China.
authors.forename: Hongyan
authors.initials: H
authors.lastname: Zhang
authors.affiliation: China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Shi
authors.affiliation: China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Han
authors.affiliation: China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China. Electronic address: quchunyan@yahoo.com.
authors.forename: Chunyan
authors.initials: C
authors.lastname: Qu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D055757:SOXE Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors
keywords: Hearing loss; Hirschsprung disease; PCWH; SOX10; Waardenburg syndrome