Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.
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.
Scioletti
Anna Paola
AP
Department of Clinical Sciences and Bioimages, G. d'Annunzio University, Chieti-Pescara, Italy.
Brancati
Francesco
F
Gatta
Valentina
V
Antonucci
Ivana
I
Peissel
Bernard
B
Pizzuti
Antonio
A
Mortellaro
Carmen
C
Tetè
Stefano
S
Gherlone
Enrico
E
Palka
Giandomenico
G
Stuppia
Liborio
L
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
C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors