Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, being characterised by variableassociation of lower lip pits, cleft lip and cleft palate. VWS is transmitted in an autosomal dominant manner, with highpenetrance and variable expressivity, and a gene for this disease has been mapped in 1q32-q41. Very recently, mutations ofthe interferon regulatory factor 6 (IRF6) gene have been found in VWS patients, suggesting that this gene plays an importantrole in the orofacial development. We report a novel mutation of the IRF6 in an Italian family with six members affected byVWS with different expression. This mutation, the W217X, produces a stop codon within exon 6 of the IRF6 gene, with lossof the SMIR domain of the IRF6 protein
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome
Gatta V.;Palka C.;Chiesa P. L.;Stuppia L.
2004-01-01
Abstract
Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, being characterised by variableassociation of lower lip pits, cleft lip and cleft palate. VWS is transmitted in an autosomal dominant manner, with highpenetrance and variable expressivity, and a gene for this disease has been mapped in 1q32-q41. Very recently, mutations ofthe interferon regulatory factor 6 (IRF6) gene have been found in VWS patients, suggesting that this gene plays an importantrole in the orofacial development. We report a novel mutation of the IRF6 in an Italian family with six members affected byVWS with different expression. This mutation, the W217X, produces a stop codon within exon 6 of the IRF6 gene, with lossof the SMIR domain of the IRF6 proteinI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
