PROS1 IVS10+5G > A mutation causes hereditary protein S deficiency in a Chinese patient with pulmonary embolism and venous thromboembolism

Protein S (PS, OMIM #176880) is a vitamin K-dependent plasma glycoprotein that acts as a non-enzymatic cofactor for activated protein C (PC) involved in the degradation of coagulation factors V and VIII, thereby inhibiting blood clotting [1]. PS deficiency (PSD, OMIM#612336) is an autosomal dominant (AD) haploinsufficiency disorder with incomplete penetrance and variable clinical expressivity, recognized as an independent risk factor for venous thromboembolism (VTE) and found in 1.5% to 7% of selected groups of thrombophilic patients [2].

Source: Thrombosis Research - December 7, 2018 Category: Hematology Authors: Xiong Wang, Ning Tang, Xu Wang, Yanjun Lu, Jun Yang Tags: Letter to the Editors-in-Chief Source Type: research