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


Address correspondence to Lorena Miñones-Suarez, M.D., Hospital Universitario Central de Asturias, c/Celestino Villamil s/n., 33006 Oviedo, Asturias, Spain, or e-mail: lorenaminones@gmail.com.


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).