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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]

A recent report from the University of Iowa explores the role of DNA methylation in the phenotypic variability of Van der Woude Syndrome (VWS). VWS is characterized by lip pits and cleft lip and/or cleft palate, and the study suggests that epigenetic factors may act as modifiers of the syndrome. The researchers analyzed DNA methylation patterns in the regulatory regions of two genes, IRF6 and TP63, and found differential methylation associated with cleft type and phenotypic severity. These findings indicate that epigenetic changes in IRF6 and TP63 may contribute to the heterogeneity of VWS. [Extracted from the article]

A preprint abstract from medrxiv.org discusses the potential role of DNA methylation in the phenotypic variability of Van der Woude Syndrome (VWS). VWS is characterized by lip pits and orofacial clefts, and individuals with the same mutation can exhibit different phenotypes. The study hypothesizes that differential DNA methylation in regulatory regions of IRF6 and TP63, genes involved in palatogenesis, may contribute to this phenotypic discordance. The researchers found that individuals with any form of cleft had higher methylation levels in the IRF6 promoter compared to those with lip pits only, suggesting that hypermethylation may impact the severity of the phenotype. However, it is important to note that this preprint has not been peer-reviewed. [Extracted from the article]

Diseases and Conditions, Genetics, Health and Medicine, Van der Woude Syndrome Keywords: Diseases and Conditions; Genetics; Health and Medicine; Van der Woude Syndrome EN Diseases and Conditions Genetics Health and Medicine Van der Woude Syndrome 2023 MAR 10 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Investigators discuss new findings in Van der Woude syndrome. [Extracted from the article]