title: Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
abstract: Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and hypodontia. Mutations of the interferon regulatory factor 6 gene (IRF6) have been recently described in patients with VWS. The entire 9 exons of the IRF6 gene in two brothers of Turkish origin clinically diagnosed with Van der Woude syndrome and four healthy family members were screened for mutations using a newly established denaturing gradient gel electrophoresis (DGGE) method. A novel heterozygous mutation in exon 2 (DNA binding region) of the IRF6 gene, p.Arg84Gly, was found in both brothers with VWS and in their clinically asymptomatic mother. Our results suggest a dominant negative effect of the p.Arg84Gly mutation in the VWS of both patients. Non-penetrance of this mutation is suggested in the mother of the patients.
authors.affiliation: University Hospital of Cranio-Maxillofacial and Oral Surgery, Medical University of Vienna, A-1090 Vienna, Austria. chikeitem@hotmail.com
authors.forename: Chike Bellarmine
authors.initials: CB
authors.lastname: Item
authors.forename: Dritan
authors.initials: D
authors.lastname: Turhani
authors.forename: Dietmar
authors.initials: D
authors.lastname: Thurnher
authors.forename: Kaan
authors.initials: K
authors.lastname: Yerit
authors.forename: Klaus
authors.initials: K
authors.lastname: Sinko
authors.forename: Gert
authors.initials: G
authors.lastname: Wittwer
authors.forename: Wasiu Lanre
authors.initials: WL
authors.lastname: Adeyemo
authors.forename: Klemens
authors.initials: K
authors.lastname: Frei
authors.forename: Nihan
authors.initials: N
authors.lastname: Erginel-Unaltuna
authors.forename: Franz
authors.initials: F
authors.lastname: Watzinger
authors.forename: Rolf
authors.initials: R
authors.lastname: Ewers
mesh_terms: D020121:5' Untranslated Regions; D000015:Abnormalities, Multiple / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004247:DNA / Q000378:metabolism; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D050835:Interferon Regulatory Factors; D008297:Male; D008969:Molecular Sequence Data; D009056:Mouth Abnormalities / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D011401:Promoter Regions, Genetic; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014421:Turkey
chemical_list: D020121:5' Untranslated Regions; D017931:DNA Primers; D004268:DNA-Binding Proteins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D014157:Transcription Factors; D004247:DNA; D001120:Arginine; D005998:Glycine