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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...

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Detalles Bibliográficos
Autores principales: Peng, Yu, Wang, Tun, Zheng, Yu, Lian, Aojie, Zhang, Di, Xiong, Zhimin, Hu, Zhengmao, Xia, Kun, Shu, Chang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
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
Descripción
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.