title: Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.
abstract: Background. Venous malformations (VM) result from an error in vascular morphogenesis. The first gene suspected in their development is the TEK gene (tyrosine kinase, endothelial). Mutations of this gene have been identified in several Belgian families with a dominant form of the disease. Therefore, we investigated whether mutations in this TEK gene could explain the MV development in patients of families from Tlemcen region (north-western Algeria). Methods. Genomic DNA was extracted from leucocytes of ten patients. The search for mutations in all the 23 exons and in the 5' and 3' intronic sequences flanking the TEK gene was performed using PCR amplification and direct sequencing of amplified genomic DNA. Additionally, a search for somatic mutations of the gene TEK was performed on a biopsy of the venous malformation from one of the ten eligible patients. Results. The sequencing of the 23 exons of the TEK gene revealed neither germinal mutation in our ten patients nor somatic mutation in the tissue of the biopsy. Conclusion. The absence of mutation in the TEK gene in the population studied suggests that the TEK gene is not necessarily involved in the onset of VM; its association with these malformations may differ from one population to another.
authors.affiliation: Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, 13000 Tlemcen, Algeria.
authors.forename: Nabila
authors.initials: N
authors.lastname: Brahami
authors.affiliation: Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, 13000 Tlemcen, Algeria.
authors.forename: Mourad
authors.initials: M
authors.lastname: Aribi
authors.affiliation: Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, 13000 Tlemcen, Algeria ; Service de Stomatologie et de Chirurgie Buccale du Centre Hospitalier et Universitaire de Tlemcen, 13000 Tlemcen, Algeria.
authors.forename: Badr-Eddine
authors.initials: BE
authors.lastname: Sari
authors.affiliation: Génétique Médicale, Laboratoire de Cytologie Clinique et Cytogénétique, CHU de Nîmes, Place du Professeur Robert Debré, 30029 Nimes Cedex 9, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Khau Van Kien
authors.affiliation: Unité Médicale des Maladies Auto-Inflammatoires, Département de Génétique, CHRU, Montpellier, 34961 Montpellier Cedex 2, France ; Université Montpellier 1, 34961 Montpellier Cedex 2, France ; Génétique des Maladies Auto-Inflammatoires et des Ostéo-Arthropathies Chroniques, INSERM U844, 34091 Montpellier Cedex 5, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
authors.affiliation: Laboratoire d'Immunogénétique Moléculaire, Institut de Génétique Humaine, CNRS UPR 1142, et Université Montpellier 2, 34095 Montpellier Cedex 5, France.
authors.forename: Gérard
authors.initials: G
authors.lastname: Lefranc
authors.affiliation: Unité Médicale des Maladies Auto-Inflammatoires, Département de Génétique, CHRU, Montpellier, 34961 Montpellier Cedex 2, France.
authors.forename: Mouna
authors.initials: M
authors.lastname: Barat-Houari