Key result
A novel heterozygous nonsense mutation in SERPINC1 (c.964A>T) and a missense mutation in F2 (c.494C>T) were identified as the molecular mechanisms leading to antithrombin and prothrombin deficiencies in a Chinese family.
Why the study?
The study was conducted to illustrate the connection between gene mutations and the corresponding deficiencies of antithrombin and coagulation factor II.
Case Report (n=7)
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A novel SERPINC1 mutation (c.964A > T) and a missense F2 mutation (c.494C > T) were identified as the molecular mechanisms leading to antithrombin and prothrombin deficiency in a Chinese family with thrombotic manifestations.
Background and Aims: Antithrombin (AT) is the most important physiological inhibitor in vivo, and coagulation factor II (FII) or prothrombin is a coagulation factor vital to life. The purpose of our research was to illustrate the connection between gene mutations and the corresponding deficiencies of AT and FII. Methods: Functional and molecular analyses were performed. The possible impact of the mutation was analyzed by online bioinformatics software. ClustalX-2.1-win and PyMol/Swiss-Pdb Viewer software were used for conservative analyses and to generate molecular graphic images, respectively. Results: The proband showed a lower limb venous thrombosis and acute pulmonary embolism infarction with reduced AT activity (50%). His mother, with subcutaneous ecchymosis, had reduced activities of AT and FII, of 44 and 5%, respectively. Molecular analysis showed that both the proband and his mother carried c.964A > T (p.Lys322stop) heterozygotes in SERPINC1. The difference was that his mother carried homozygous c.494C > T (p.Thr165Met) in F2, while the proband was wild type. Bioinformatics and model analysis indicated that mutations may destroy the function and structure of AT and FII protein. Conclusion: This study identified a novel mutation of SERPINC1 and a missense mutation of F2, which may be the molecular mechanism leading to AT and FII deficiency in this family. It will help genetic diagnosis and counseling for thrombotic families.
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Zhang et al. (2022) conducted a case report in Antithrombin and prothrombin deficiency / Venous thromboembolism (n=7). SERPINC1 and F2 gene mutations was evaluated on Genetic mutations associated with AT and FII deficiency. A novel heterozygous nonsense mutation in SERPINC1 (c.964A>T) and a missense mutation in F2 (c.494C>T) were identified as the molecular mechanisms leading to antithrombin and prothrombin deficiencies in a Chinese family.
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