Article
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
Blood - 14 Jul 2022
de la Morena-Barrio Maria Eugenia, Suchon Pierre, Jacobsen Eva Marie, Iversen Nina, Miñano Antonia, de la Morena-Barrio Belén, Bravo-Pérez Carlos, Padilla Jose, Cifuentes Rosa, Asenjo Susana, Deleuze Jean François, Trégouët David Alexandre, Lozano Maria Luisa, Vicente Vicente, Sandset Per Morten, Morange Pierre Emmanuel, Corral Javier
Abstract excerpt
Antithrombin deficiency, the most severe congenital thrombophilia, might be underestimated, as some pathogenic variants are not detected by routine functional methods. We have identified 2 new SERPINC1 variants, p.Glu227Lys and p.Asn224His, in 4 unrelated thrombophilic patients with early and recurrent thrombosis that had normal antithrombin activity. In one case, the mutation was identified by whole genome...
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