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Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense

Haoyu Deng1, Wei Shen, Yi Gu

  • 1Department of Vascular Surgery, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People's Republic of China.

Journal of Thrombosis and Thrombolysis
|April 27, 2012
PubMed

Antithrombin is a plasma protein critical to the regulation of coagulation. It plays a pivotal anticoagulant role by preventing the activation of procoagulant proteinases. Inherited and (or) acquired deficiency of AT is an established risk factor for venous thromboembolism. Sequencing analysis of SERPINC1 gene of three families revealed that Family I had double novel missense mutations (c.134G > A&c.342T > G), Family II had a nonsense mutation (c.770G > A) while Family III had a frameshift mutation (c.800-803del). In addition, all of them had a large number of carriers in their families what was very rare in China.

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