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Updated: Jun 8, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome
Anna Paola Scioletti1, Francesco Brancati, Valentina Gatta
1Department of Clinical Sciences and Bioimages, G. d'Annunzio University, Chieti-Pescara, Italy.
Abstract:
van der Woude syndrome (VWS) is a rare autosomal dominant oral facial disorder characterized by high penetrance and variable expression, manifesting with lower lip pits, cleft lips with or without cleft palate, and isolated cleft palate. The phenotypic expression of clefts ranges from incomplete to complete. Different studies have demonstrated an association between VWS and mutations of the IRF6 (interferon regulatory factor) gene. In this study, we describe 2 novel Italian families with VWS harboring 2 distinct splice site mutations in the IRF6 gene. These results add to the previous 9 splicing mutations identified in patients with VWS and strengthen the importance of this type of alterations in the pathogenesis of the disease.
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