[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Feb;23(1):82-3.
[Article in Chinese]

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.

Conclusion: 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.

MeSH terms

  • Asian People / genetics*
  • Cleft Lip / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Interferon Regulatory Factors / genetics*
  • Male
  • Mutation
  • Pedigree

Substances

  • IRF6 protein, human
  • Interferon Regulatory Factors