biostudies-literatureAdam FInstitut National de la Santé et de la Recherche MédicaleFondation pour la Recherche Médicale2666-2678https://www.ebi.ac.uk/biostudies/studies/S-EPMC9826440biostudies-literatureUnknown20(11)<h4>Background</h4>Filaminopathies A are rare disorders affecting the brain, intestine, or skeleton, characterized by dominant X-linked filamin A (FLNA) gene mutations. Macrothrombocytopenia with functionally defective platelets is frequent. We have described a filaminopathy A male patient, exhibiting a C-terminal frame-shift FLNa mutation (Berrou et al., Arterioscler Thromb Vasc Biol. 2017;37:1087-1097). Contrasting with female patients, this male patient exhibited gain of platelet functions, including increased platelet aggregation, integrin αIIbβ3 activation, and secretion at low agonist concentration, raising the issue of thrombosis risk.<h4>Objectives</h4>Our goal is to assess the thrombotic potential of the patient FLNa mutation in an in vivo model.<h4>Methods</h4>We have establishedJournal of thrombosis and haemostasis : JTHA gain-of-function filamin A mutation in mouse platelets induces thrombus instability.PMC9826440LPC20170637458Kauskot ARosa JPReperant CRaslova HLamrani LBryckaert MDenis CVAdam FSolarz JSoukaseum CfalseA gain-of-function filamin A mutation in mouse platelets induces thrombus instability.<h4>Background</h4>Filaminopathies A are rare disorders affecting the brain, intestine, or skeleton, characterized by dominant X-linked filamin A (FLNA) gene mutations. Macrothrombocytopenia with functionally defective platelets is frequent. We have described a filaminopathy A male patient, exhibiting a C-terminal frame-shift FLNa mutation (Berrou et al., Arterioscler Thromb Vasc Biol. 2017;37:1087-1097). Contrasting with female patients, this male patient exhibited gain of platelet functions, including increased platelet aggregation, integrin αIIbβ3 activation, and secretion at low agonist concentration, raising the issue of thrombosis risk.<h4>Objectives</h4>Our goal is to assess the thrombotic potential of the patient FLNa mutation in an in vivo model.<h4>Methods</h4>We have established2022-01-01T00:00:00Z2022 Nov2025-04-05T10:26:34.99Z2025-04-05T10:26:34.99ZS-EPMC98264403600603710.1111/jth.15864