Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.

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Date
2005-02-01
Authors
Item, C.B.
Turhani, D.
Thurnher, D.
Yerit, K.
Sinko, K.
Wittwer, G.
Adeyemo, W.L.
Frei, K.
Erginel-Unaltuna, N.
Watzinger, F.
Journal Title
Journal ISSN
Volume Title
Publisher
Int J Mol Med
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.
Description
Keywords
Van der Woude syndrome , mutation , IRF6 gene
Citation
Item CB, Turhani D, Thurnher D, Yerit K, Sinko K, Wittwer G, Adeyemo WL, Frei K, Erginel-Unaltuna N, Watzinger F, Ewers R. Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. Int J Mol Med. 2005 Feb;15(2):247-51.