A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report

RATIONALE: Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis. PATIENT CONCERNS: The patient came to see a doctor because of leg swelling. A color Doppler ultrasound examination showed extensive thrombosis within the deep veins of her left leg. Computed tomography angiography showed a pulmonary embolism in her right lower pulmonary artery. DIAGNOSES: Type II AT deficiency lead to inherited DVT. INTERVENTIONS: Whole-exome sequencing and cosegregation analysis were carried for the DVT family. OUTCOMES: An unreported heterozygous missense variation, c.281T>C, was identified within the SERPINC1 gene. This missense variation of SERPINC1 leads to type II AT deficiency. LESSONS: This result further enriched the variation spectrum of the SERPINC1 gene.