2. Academic Validation
  3. A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report

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.
Yu Peng 1 2,  Tun Wang 3,  Yu Zheng 1 2,  Aojie Lian 2,  Di Zhang 4,  Zhimin Xiong 4,  Zhengmao Hu 2,  Kun Xia 2,  Chang Shu 3
Affiliations

Affiliations

  • 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.
PMID: 30608445 DOI: 10.1097/MD.0000000000013999
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.

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