ArticlePLoS genetics2021
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 13 citations in OpenAlex.
- Real-world data on Factor V Leiden in Sweden: A nationwide family study.Journal of thrombosis and thrombolysis · 2026Article
- Cellular phospho-signaling map of the enigmatic serine/threonine kinase MAST2.Biochemistry and biophysics reports · 2025Article
- Blood plasma proteomics for detecting potential biomarkers for tick resistance in a tropically adapted beef cattle breed.BMC genomics · 2025Article
- Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.Communications biology · 2025Article
- A Circular Network of Coregulated L-Threonine and L-Tryptophan Metabolism Dictates Acute Lower Limb Ischemic Injury.International journal of medical sciences · 2024Article
- Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.International journal of molecular sciences · 2023Article
- Microtubule-Associated Serine/Threonine (MAST) Kinases in Development and Disease.International journal of molecular sciences · 2023Review
- Article
- Expanding the Genetic Blueprint of Wilms Tumor: An Account of 71 Novel Variants across 16 Genes with Novel Implications for Wilms Tumor Pathogenesis.Journal of Indian Association of Pediatric SurgeonsArticle
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Rare variants outside the classical coagulation cascade might cause inherited thrombosis. We aimed to identify the variant(s) causing venous thromboembolism (VTE) in a family with multiple relatives affected with unprovoked VTE and no thrombophilia defects. We identified by whole exome sequencing an extremely rare Arg to Gln variant (Arg89Gln) in the Microtubule Associated Serine/Threonine Kinase 2 (MAST2) gene that segregates with VTE in the family. Free-tissue factor pathway inhibitor (f-TFPI) plasma levels were significantly decreased in affected family members compared to healthy relatives. Conversely, plasminogen activator inhibitor-1 (PAI-1) levels were significantly higher in affected members than in healthy relatives. RNA sequencing analysis of RNA interference experimental data conducted in endothelial cells revealed that, of the 13,387 detected expressed genes, 2,354 have their level of expression modified by MAST2 knockdown, including SERPINE1 coding for PAI-1 and TFPI. In HEK293 cells overexpressing the MAST2 Gln89 variant, TFPI and SERPINE1 promoter activities were respectively lower and higher than in cells overexpressing the MAST2 wild type. This study identifies a novel thrombophilia-causing Arg89Gln variant in the MAST2 gene that is here proposed as a new molecular player in the etiology of VTE by interfering with hemostatic balance of endothelial cells.
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