A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report
- Medicine (Baltimore). 2019 Jan;98(1):e13999. doi: 10.1097/MD.0000000000013999.
- 1. Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha.
- 2. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University.
- 3. Department of Vascular Surgery, The Second Xiangya Hospital of Central South University.
- 4. Clinical Laboratory, The Third Xiangya Hospital of Central South University, Changsha, Hunan, China.
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.