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J Negat Results Biomed. 2017 Mar 20;16(1):9. doi: 10.1186/s12952-017-0072-5.

Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src.

Author information

1
Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, Imama-Mansourah, Rocade # 2, PO Box: 262, Tlemcen, 13000, Algeria.
2
UMR U866 INSERM, University of Burgundy, 21000, Dijon, France.
3
Laboratory of Cell and Hormonal Biology, Arnaud de Villeneuve Hospital, 34295, Montpellier, France.
4
Stomatology and Oral Surgery Department of Tlemcen, University Medical Centre, 13000, Tlemcen, Algeria.
5
Laboratoire d'Immunogénétique Moléculaire, Institut de Génétique Humaine, CNRS UPR 1142, et Université de Montpellier, Montpellier, 34095, Cedex 5, France.
6
Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, Imama-Mansourah, Rocade # 2, PO Box: 262, Tlemcen, 13000, Algeria. m_aribi@mail.univ-tlemcen.dz.

Abstract

We aimed to search for mutations in the germline and somatic DNA of the TEK gene and to analyze the expression level of Src and phospho-Src (p-Src) in tumor and healthy tissues from patients with facial cutaneo-mucosal venous malformations (VMCM). Eligible patients from twelve families and thirty healthy controls were recruited respectively at the Departments of Stomatology and Oral Surgery, and Transfusion Medicine of Tlemcen University Medical Centre. Immunoblot analyses of Src and p-Src were performed after direct DNA sequencing. No somatic or germline mutations were found in all the 23 exons and their 5' and 3' intronic flanking regions, except for one case in which a c.3025+20-3025+22 del mutation was highlighted at the intron 15, both in the germline and somatic DNA. Additionally, elevated expression levels of Src and p-Src were observed only in the patient with such mutation. However, when normalized to β-actin, the overall relative expression levels of both Src and p-Src were significantly increased in VMCM tissues when compared to healthy tissues (for both comparisons, p <0.001). In conclusion, we confirm the outcomes of our previous work suggesting that VMCM can develop independently of mutation of the TEK gene. Additionally, the results for Src activity are of particular interest in the context of specific targeted therapies and biological diagnosis. Nevertheless, such a conclusion should be confirmed through a mechanistic study and/or in a satisfactory number of patients.

KEYWORDS:

Cutaneo-mucosal venous malformations; Direct sequencing; Germline and somatic DNA; Src; TEK gene; p-Src

PMID:
28316284
PMCID:
PMC5357811
DOI:
10.1186/s12952-017-0072-5
[Indexed for MEDLINE]
Free PMC Article

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