title: A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.
abstract: Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, being characterised by variable association of lower lip pits, cleft lip and cleft palate. VWS is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity, and a gene for this disease has been mapped in 1q32-q41. Very recently, mutations of the interferon regulatory factor 6 (IRF6) gene have been found in VWS patients, suggesting that this gene plays an important role in the orofacial development. We report a novel mutation of the IRF6 in an Italian family with six members affected by VWS with different expression. This mutation, the W217X, produces a stop codon within exon 6 of the IRF6 gene, with loss of the SMIR domain of the IRF6 protein.
authors.affiliation: Dipartimento di Scienze Biomediche, Università "G. D'Annunzio", Via dei Vestini 35, 66013 Chieti-Pescara, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
authors.forename: Oronzo
authors.initials: O
authors.lastname: Scarciolla
authors.forename: Massimo
authors.initials: M
authors.lastname: Cupaioli
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.forename: Pierluigi Lelli
authors.initials: PL
authors.lastname: Chiesa
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
mesh_terms: D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D018388:Codon, Terminator; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D019077:Helix-Turn-Helix Motifs; D006801:Humans; D050835:Interferon Regulatory Factors; D007558:Italy; D008297:Male; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D017434:Protein Structure, Tertiary / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D004268:DNA-Binding Proteins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D014157:Transcription Factors