title: [Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome].
abstract: OBJECTIVE
  To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China.
  
  
  METHODS
  Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing.
  
  
  RESULTS
  Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214 (T-->C) in exon 9, two nonsense mutations 981 (T-->A) in exon 7 and 1234 (C-->T) in exon 9. All affected members of the three families were heterozygous for their respective mutation.
  
  
  CONCLUSIONS
  Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.
authors.affiliation: Department of Oral and Maxillofacial Surgery, West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, P.R.China.
authors.forename: Xin-ya
authors.initials: XY
authors.lastname: Du
authors.forename: Wei
authors.initials: W
authors.lastname: Tang
authors.forename: Wei-dong
authors.initials: WD
authors.lastname: Tian
authors.forename: Xiao-yu
authors.initials: XY
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
authors.forename: Xiao-hui
authors.initials: XH
authors.lastname: Zheng
mesh_terms: D044466:Asian People / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors