Identification of IRF6 gene variants in three families with Van der Woude syndrome.

@article{Tan2008IdentificationOI,
  title={Identification of IRF6 gene variants in three families with Van der Woude syndrome.},
  author={Ene-Choo Tan and Eileen Chew-Ping Lim and S F Yap and S T Lee and Joanne J Cheng and Yong-Chen Por and Vincent Kok Leng Yeow},
  journal={International journal of molecular medicine},
  year={2008},
  volume={21 6},
  pages={747-51}
}
Van der Woude syndrome is the most common cause of syndromic orofacial clefting. It is characterised by the presence of lip pits, cleft lip and/or cleft palate. It is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity. Several mutations in the interferon regulatory factor 6 (IRF6) gene have been found in VWS families, suggesting that this gene is the primary locus. We screened for mutations in this gene in three families in our population. There was a… CONTINUE READING