title: Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.
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.
authors.affiliation: Department of Clinical Sciences and Bioimages, G. d'Annunzio University, Chieti-Pescara, Italy.
authors.forename: Anna Paola
authors.initials: AP
authors.lastname: Scioletti
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
authors.forename: Ivana
authors.initials: I
authors.lastname: Antonucci
authors.forename: Bernard
authors.initials: B
authors.lastname: Peissel
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Carmen
authors.initials: C
authors.lastname: Mortellaro
authors.forename: Stefano
authors.initials: S
authors.lastname: Tetè
authors.forename: Enrico
authors.initials: E
authors.lastname: Gherlone
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Palka
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
mesh_terms: D000328:Adult; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017421:Sequence Analysis; D013577:Syndrome
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors