Article
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.
PLoS genetics - 1 Jan 2021
Morange Pierre-Emmanuel, Peiretti Franck, Gourhant Lenaick, Proust Carole, Soukarieh Omar, Pulcrano-Nicolas Anne-Sophie, Saripella Ganapathi-Varma, Stefanucci Luca, Lacroix Romaric, Ibrahim-Kosta Manal, Lemarié Catherine A, Frontini Mattia, Alessi Marie-Christine, Trégouët David-Alexandre, Couturaud Francis
Abstract excerpt
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...
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