Investigators from Sichuan University Report New Data on Van der Woude Syndrome (Causal Variations At irf6 Gene Identified In Van Der Woude Syndrome Pedigrees).

A recent study conducted by investigators from Sichuan University in Chengdu, People's Republic of China, focused on analyzing the clinical characteristics of patients with Van der Woude Syndrome (VWS) and identifying variations in each patient. The research identified a novel variation (IRF6 p. Glu404Gly) that expands the spectrum of known variations in VWS in Chinese individuals. The study concluded that combining genetic results with clinical phenotypes and differential diagnosis points from other diseases can lead to a definitive diagnosis and provide genetic counseling for families. This research was funded by the National Science Funds of China and the National Precision Medicine Project, and has been peer-reviewed and published in The Cleft Palate-Craniofacial Journal. [Extracted from the article]