Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.

Anna Paola Scioletti, Francesco Brancati, Valentina Gatta, Ivana Antonucci, Bernard Peissel, Antonio Pizzuti, Carmen Mortellaro, Stefano Tetè, Enrico Gherlone, Giandomenico Palka, Liborio Stuppia

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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.

Original languageEnglish
Pages (from-to)1654-1656
Number of pages3
JournalJournal of Craniofacial Surgery
Volume21
Issue number5
Publication statusPublished - Sep 2010

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Scioletti, A. P., Brancati, F., Gatta, V., Antonucci, I., Peissel, B., Pizzuti, A., Mortellaro, C., Tetè, S., Gherlone, E., Palka, G., & Stuppia, L. (2010). Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. Journal of Craniofacial Surgery, 21(5), 1654-1656.