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

Abstract

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.

Figure 1

(A) The pedigree of a Chinese deep vein thrombosis (DVT) family (∗ represents the individual's DNA was available). (B) c.281T>C variation in SERPINC1 gene. (C) The 2 excrescent strong H-bonds formed by Ser62 side chain and main chain amide of Phe58 and Ala59 (red represents O, blue represents N, fluorescent green represents strong H-bond, grayish green represents weak H-bond).