A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease

Protein S (PS) is a vitamin K-dependent plasma glycoprotein that acts as a non-enzymatic cofactor for activated protein C (APC) and inactivates factor Va and VIIa [1]. Hereditary PS deficiency (MIM#612336) is an autosomal dominant haploinsufficiency that is associated with venous thrombosis [2]. PS is encoded by the PROS1 gene, located in 3q11.2, which contains 15 exons and spans more than 101  kilobase pairs (kb) [3]. The detection rates of PROS1 variation in hereditary PS deficiency range from 50% to 90% [4].

Source: Thrombosis Research - March 10, 2020 Category: Hematology Authors: Ya Tan, Kai Yang, Jing Wang, Xinping Sun, Ruirui Li, Zhe Dong, Na Zhao, Yousheng Yan, Li Lin Tags: Letter to the Editors-in-Chief Source Type: research