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Item, C.B. et al.

Item, Turhani, Thurnher, Yerit, Sinko, Wittwer, Adeyemo, Frei, Erginel-Unaltuna, Watzinger, Ewers,

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

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.[1]

References

Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. Item, C.B., Turhani, D., Thurnher, D., Yerit, K., Sinko, K., Wittwer, G., Adeyemo, W.L., Frei, K., Erginel-Unaltuna, N., Watzinger, F., Ewers, R. Int. J. Mol. Med. (2005) [Pubmed]

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