1. A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis
- Author
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Fangfang Xu, Zhenjie Liu, Xin-Yi Teng, Li Yin, and Yu Han
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Antithrombin III ,030204 cardiovascular system & hematology ,03 medical and health sciences ,symbols.namesake ,Exon ,0302 clinical medicine ,SERPINC1 Gene ,medicine ,Humans ,Exome sequencing ,Venous Thrombosis ,Sanger sequencing ,Portal Vein ,business.industry ,Venous Thromboembolism ,Hematology ,General Medicine ,Middle Aged ,medicine.disease ,Cerebral Sinus ,Portal vein thrombosis ,Mutation ,symbols ,Female ,business ,Venous thromboembolism ,Novel mutation ,030215 immunology - Abstract
Inherited antithrombin deficiency (OMIM 107300) is a rare autosomal dominant disorder that could increase the risk of venous thromboembolism and is usually caused by mutations of SERPINC1. Herein, we present a case of a novel mutation in the SERPINC1 gene in a Chinese patient. The patient was a 54-year-old man who presented with recurrent venous thromboembolism and was without a recent history of any precipitating factors. Whole exome sequencing and Sanger sequencing identified a novel heterozygous variant on exon 2 of SERPINC1 gene (c.142G>A, p.P48S).
- Published
- 2020
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