Association of the p.Phe155del mutation in SERPINC1 with changed antithrombin function and increased risk of venous thromboembolism: clinical and functional observations.

ABSTRACT:

Introduction

Antithrombin (AT) deficiency, often caused by mutations in the SERPINC1 gene, is a well-established risk factor for venous thromboembolism (VTE), which can lead to serious complications such as deep vein thrombosis (DVT), pulmonary embolism (PE), and cerebral venous sinus thrombosis (CVST). Syndecan-4 (SDC4), an endothelial cell membrane protein, enhances AT's anticoagulant function by facilitating its interaction with the vascular endothelium, thereby supporting hemostatic balance.

Methods

Our team enrolled a patient diagnosed with CVST, and subsequent genetic testing identified the SERPINC1 p.Phe155del variant. This study sought to elucidate the interaction between AT mutations and SDC4 in VTE pathogenesis using clinical case analyses, molecular docking, co-im

SUBMITTER: Lu J 

PROVIDER: S-EPMC12723898 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature