A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family
| Autor: | Peng, Yu, Wang, Tun, Zheng, Yu, Lian, Aojie, Zhang, Di, Xiong, Zhimin, Hu, Zhengmao, Xia, Kun, Shu, Chang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Venous Thrombosis Computed Tomography Angiography missense mutation Antithrombin III Middle Aged antithrombin Young Adult Asian People Exome Sequencing Humans Thrombophilia cardiovascular diseases Clinical Case Report SERPINC1 Ultrasonography Doppler Color Child Pulmonary Embolism Research Article deep venous thrombosis |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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