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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dc.contributor.authorItem, C.B.
dc.contributor.authorTurhani, D.
dc.contributor.authorThurnher, D.
dc.contributor.authorYerit, K.
dc.contributor.authorSinko, K.
dc.contributor.authorWittwer, G.
dc.contributor.authorAdeyemo, W.L.
dc.contributor.authorFrei, K.
dc.contributor.authorErginel-Unaltuna, N.
dc.contributor.authorWatzinger, F.
dc.contributor.authorEwers, R.
dc.date.accessioned2019-10-27T18:51:55Z
dc.date.available2019-10-27T18:51:55Z
dc.date.issued2005-02-01
dc.description.abstractVan 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.en_US
dc.identifier.citationItem 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.en_US
dc.identifier.urihttps://ir.unilag.edu.ng/handle/123456789/6539
dc.language.isoenen_US
dc.publisherInt J Mol Meden_US
dc.subjectVan der Woude syndromeen_US
dc.subjectmutationen_US
dc.subjectIRF6 geneen_US
dc.titleVan Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.en_US
dc.typeArticleen_US
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