title: Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.
abstract: Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited, developmental disorder that is characterized by pits and/or sinuses of the lower lip and a cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. However, the VWS phenotype, IRF6 mutation genotypes, and their interrelationships in Chinese VWS patients have not been studied. Here, we report 11 Chinese families with variable clinical phenotypes of VWS and identified mutations in all patients. Of the 11 mutations, 8 appeared to be novel: CC5.6GT, T342A, 566delA, C748T, C756A, C989A, C1209G, and 1316delT. Seven mutations caused a change or loss of the IRF6 domain. The marked phenotypic variation may be caused by the action of certain modifier genes on IRF6 function.
authors.affiliation: Department of Oral & Maxillofacial Surgery, West China College of Stomatology, Sichuan University, Chengdu 610041, P.R. China.
authors.forename: X
authors.initials: X
authors.lastname: Du
authors.forename: W
authors.initials: W
authors.lastname: Tang
authors.forename: W
authors.initials: W
authors.lastname: Tian
authors.forename: S
authors.initials: S
authors.lastname: Li
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: X
authors.initials: X
authors.lastname: Zheng
authors.forename: X
authors.initials: X
authors.lastname: Chen
authors.forename: Y
authors.initials: Y
authors.lastname: Lin
authors.forename: Y
authors.initials: Y
authors.lastname: Tang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D010375:Pedigree; D013577:Syndrome
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors