Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
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; 15(2):247-251
Doi: 10.3892/ijmm.15.2.247
(- Case Report)
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- Co-authors Med Uni Graz
- Thurnher Dietmar
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- 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
- Transcription Factors -
- Find related publications in this database (Keywords)
- Van der Woude syndrome
- mutation
- interferon regulatory factor 6 gene