Laboratory diagnosis of juvenile thrombophilia from compound heterozygous protein C variants:a family report and literature reviewOA
Protein C(PC)is an important physiological anticoagulant protein that is a vitamin K-dependent serine protease precursor that is synthesized mainly by the liver and released into the blood.It is activated by the thrombin/thrombomodulin complex to form activated protein C(APC),which exerts physiological anticoagulant functions by inactivating activated coagulation factors Ⅴ and Ⅷ.1 PC is encoded by the protein C gene(PROC),which is located in the q13-q14 region of chromosome 2 and consists of 9 exons and 8 introns and is approximately 11.2 kb in length.2 Individuals carrying the PROC gene variant have a risk of developing venous thrombosis that is approximately 7 times greater than that of normal individuals.PC deficiency caused by homozygous or compound heterozygous variations in the PROC gene is extremely rare.3 The prevalence rate of protein C deficiency among healthy people in China is approximately 0.29%.4 Here,we report a teenage patient with multiple recurrent deep venous thromboses associated with protein C deficiency caused by compound heterozygous variants that have not been previously reported.
Zhi-jun Meng;Ye-ling Lu;Yu Liu;Guan-qun Xu;Qiu-lan Ding;Jing Dai;Wen-man Wu;Xue-feng Wang
Department of Laboratory Medicine,Shanxi Provincial People’s Hospital,Taiyuan 030012,Shanxi,China Department of Postdoctor Station,The Second Affiliated Hospital of Shanxi Medical University,Taiyuan 030001,Shanxi,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,ChinaDepartment of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China
医药卫生
anticoagulant proteincompound heterozygous variantsliterature reviewdeep venous thrombosisgenetic diagnosisactivated proteinprotein cjuvenile thrombophilia
《LabMed Discovery》 2025 (4)
P.36-40,5
supported by the Natural Science Foundation of China(No.82300492)the Scientific Research Project of Health Commission in Shanxi Province,China(Nos.2023XG009 and 2023RC008)the China Postdoctoral Science Foundation(No.2023M732154)the Research Project Supported by Shanxi Scholarship Council of China(No.2023-181)the Fund Program for the Scientific Activities of Selected Returned Overseas Professionals in Shanxi Province,China(No.20230054).
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