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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 f...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344114/ https://www.ncbi.nlm.nih.gov/pubmed/30608445 http://dx.doi.org/10.1097/MD.0000000000013999 |
Sumario: | 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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