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


ITEM C., TURHANI D., THURNHER D., YERIT K., SINKO K., WITTWER G., ...More

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, vol.15, no.2, pp.247-251, 2005 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 2
  • Publication Date: 2005
  • Journal Name: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.247-251

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.