A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome

Pediatr Dermatol. 2012 Nov-Dec;29(6):768-70. doi: 10.1111/j.1525-1470.2011.01575.x. Epub 2011 Oct 13.

Abstract

This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Cysts / genetics*
  • Family Health
  • Humans
  • Infant
  • Interferon Regulatory Factors / genetics*
  • Lip / abnormalities
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Twins

Substances

  • IRF6 protein, human
  • Interferon Regulatory Factors

Supplementary concepts

  • Van der Woude syndrome