%0 Journal Article
%T Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria
%A Nabila Brahami
%A Mourad Aribi
%A Badr-Eddine Sari
%A Philippe Khau Van Kien
%A Isabelle Touitou
%A G¨¦rard Lefranc
%A Mouna Barat-Houari
%J Genetics Research International
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/784789
%X 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¡ä and 3¡ä 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. 1. Introduction Vascular malformations (VM) are benign vascular lesions that are described as structural congenital anomalies [1]. These lesions are always present at birth, but may not be visible until days, weeks, or even years after birth [2]. VM are classified according to the type of involved vessels, such as arterial, venous, lymphatic, capillary malformations, or a combination of different vessels [1¨C3]. VM result from an error in vascular morphogenesis [4]. They are present at birth and their growth is usually gradual and steady during the first year of life [3]. Their evolutionary peak is generally observed in adolescence or after a traumatic event [5]. Localized facial forms are present essentially on the lips, eyelids, and tongue [5, 6]. The extension of the gingival mucosa can result in bleeding, which can occur spontaneously and/or after certain dental procedures and treatments [7]. Some locations cause, by mass effect, skeletal deformities in the frontoorbital region with enophthalmos and maxillomandibular and dentoalveolar defects, with repercussions on the dental bite and open bite [5, 8]. An important lip deformity tends to make them incompetent. Likewise, giant VM of the tongue can cause permanent changes in normal dental occlusion [7, 8]. Additionally, superficial VM can lead to disfigurement,
%U http://www.hindawi.com/journals/gri/2013/784789/