IRF6 polymorphisms

Patent Pending A mutation of the IRF6 gene can lead to the autosomal dominant van der Woude syndrome (VWS) [4] or the related popliteal pterygium syndrome (PPS).[5] Van der Woude syndrome can include cleft lip and palate features along with dental anomalies and lip fistulas. In addition, common alleles in IRF6 have also been associated with non-syndromic cases of cleft lip and/or palate through genome-wide association studies and in many candidate gene studies.