OBJECTIVE: To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China. METHODS: Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing. RESULTS: Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214 (T-->C) in exon 9, two nonsense mutations 981 (T-->A) in exon 7 and 1234 (C-->T) in exon 9. All affected members of the three families were heterozygous for their respective mutation. CONCLUSION: Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.
OBJECTIVE: To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China. METHODS: Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing. RESULTS: Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214 (T-->C) in exon 9, two nonsense mutations 981 (T-->A) in exon 7 and 1234 (C-->T) in exon 9. All affected members of the three families were heterozygous for their respective mutation. CONCLUSION: Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.
Authors: L Desmyter; M Ghassibe; N Revencu; O Boute; M Lees; G François; C Verellen-Dumoulin; Y Sznajer; A Moncla; H Benateau; K Claes; K Devriendt; M Mathieu; L Van Maldergem; M-C Addor; V Drouin-Garraud; G Mortier; M Bouma; A Dieux-Coeslier; D Genevieve; A Goldenberg; A Gozu; P Makrythanasis; U McEntagart; A Sanchez; C Vilain; S Vermeer; F Connell; J Verheij; S Manouvrier; G Pierquin; S Odent; M Holder-Espinasse; C Vincent-Delorme; Y Gillerot; R Vanwijck; B Bayet; M Vikkula Journal: Mol Syndromol Date: 2010-06-09