Article
Novel SERPINC1 variants in hereditary antithrombin deficiency: first pathogenic deep-intronic variant, revealed by multiple genomic and transcriptomic approaches.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2026
Remmelzwaal P Christian, Mulder René, de Boer-Bergsma Jelkje J, Vinke Albertus, Kooistra Hilde A M, Veeger Nic J G M, Wierenga Albertus T J, Schuringa Jan Jacob, Lukens Michaël V, Meijer Karina
Abstract excerpt
BACKGROUND: Antithrombin deficiency is a rare hereditary predisposition to venous thromboembolism caused by variants in the SERPINC1 gene. In up to 20% of cases, no explanatory variant is identified. OBJECTIVES: This study uncovered novel variants by covering the full SERPINC1 region. METHODS: In this single-center cohort study, we included antithrombin-deficient families in which no SERPINC1 variant had been...
Topics
- Humans
- Antithrombin III
- Antithrombin III Deficiency
- Female
- Genetic Predisposition to Disease
- Pedigree
- Male
- Introns
- Phenotype
- Adult
- Transcriptome
- Gene Expression Profiling