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	Chike Bellarmine Item, Dritan Turhani, Dietmar Thurnher, Kaan Yerit, Klaus Sinko, Gert Wittwer, Wasiu Lanre Adeyemo, Klemens Frei, Nihan Erginel-Unaltuna, Franz Watzinger, Rolf Ewers
Journal	International journal of molecular medicine (Int J Mol Med) Vol. 15 Issue 2 Pg. 247-51 (Feb 2005) ISSN: 1107-3756 [Print] Greece
PMID	15647839 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	5' Untranslated Regions DNA Primers DNA-Binding Proteins IRF6 protein, human Interferon Regulatory Factors Transcription Factors DNA Arginine Glycine
Topics	5' Untranslated Regions Abnormalities, Multiple (genetics) Anodontia (genetics) Arginine (genetics) Base Sequence Cleft Lip (genetics) Cleft Palate (genetics) DNA (metabolism) DNA Primers (genetics) DNA-Binding Proteins (genetics) Electrophoresis, Polyacrylamide Gel Exons Family Health Female Genes, Dominant Glycine (genetics) Heterozygote Humans Interferon Regulatory Factors Male Molecular Sequence Data Mouth Abnormalities (genetics) Mutation Pedigree Penetrance Phenotype Promoter Regions, Genetic Protein Structure, Tertiary Sequence Analysis, DNA Syndrome Transcription Factors (genetics) Turkey

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