biostudies-literatureUnknown23(1)Chongxia Z<h4>Background</h4>Hereditary antithrombin deficiency (HATD) is a rare disease caused by mutations in the SERPINC1 gene characterized with venous thromboembolism and/or arterial thrombotic events. We identified a proband with recurrent arterial and venous thrombosis at multiple anatomical sites and subsequently performed comprehensive thrombophilia screening and genetic analysis within the kindred.<h4>Methods</h4>Mutation screening of the SERPINC1 gene in the proband and family members was conducted using Sanger sequencing. Wild-type and mutant (c.473T > A; p.Leu158Gln) SERPINC1 expression plasmids were constructed and transiently transfected into HEK293T cells. Functional consequences of the variant were assessed through immunoblotting, immunofluorescence, enzyme-linked immunosorbent assaThrombosis journal113https://www.ebi.ac.uk/biostudies/studies/S-EPMC12632145biostudies-literatureClinical and functional characterization of a novel heterozygous mutation c.473T &gt; A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.PMC12632145Lina KKefan MYihai LChongxia ZLong YZhu LYanan XBiao XXuemei GMeijuan ZYong WfalseClinical and functional characterization of a novel heterozygous mutation c.473T &gt; A (p.Leu158Gln) in the SERPINC1 gene causing recurrent arteriovenous thrombophilia.<h4>Background</h4>Hereditary antithrombin deficiency (HATD) is a rare disease caused by mutations in the SERPINC1 gene characterized with venous thromboembolism and/or arterial thrombotic events. We identified a proband with recurrent arterial and venous thrombosis at multiple anatomical sites and subsequently performed comprehensive thrombophilia screening and genetic analysis within the kindred.<h4>Methods</h4>Mutation screening of the SERPINC1 gene in the proband and family members was conducted using Sanger sequencing. Wild-type and mutant (c.473T > A; p.Leu158Gln) SERPINC1 expression plasmids were constructed and transiently transfected into HEK293T cells. Functional consequences of the variant were assessed through immunoblotting, immunofluorescence, enzyme-linked immunosorbent assa2025-01-01T00:00:00Z2025 Nov2026-06-05T17:13:58.984Z2026-05-19T03:11:43.594ZS-EPMC126321454126709210.1186/s12959-025-00801-0