The Role of Mutations on Gene IRF6 in IRF6 Related Syndrome

1. Abstract
IRF6-related syndrome is a group of cleft lip and palate disorders including Van der Wood Syndrome (VWS) and Popliteal Pterygium Syndrome (PPS). People with VWS are at the lowest end of the spectrum. They can have cleft lip or palate or cleft palate or a combination of these abnormalities. People with PPS usually have cleft lip, cleft lip, or cleft palate, with additional skin and limb abnormalities, including dark skin on the back of both feet (papillary) and between the legs (between the veins), deformity, or abnormalities of the device. Mutations in the interferon-6 regulatory factor (IRF6) gene, located on the long arm of chromosome 1 at 1q32.2, have been linked to IRF6 syndrome.