title: A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family.
abstract: Protein S is a vitamin K-dependent plasma glycoprotein that acts as an anticoagulant, and its deficiency usually predisposes individuals to venous thromboembolism. Hereditary protein S deficiency is an autosomal dominant disorder caused by a PROS1 mutation. Herein, we described a novel PROS1 frameshift mutation, c.74dupA, in a hereditary protein S deficiency family. Interestingly, both of the proband and his mother carried the mutation and had a protein S deficiency, however, only the proband suffered a pulmonary embolism while his mother had no history of any thrombosis, suggesting that a triggering event might have been involved in the thrombus formation. Therefore, genetic testing of PROS1 appeared important for the early diagnosis of hereditary protein S deficiency, and it allowed the application of prophylactic interventions to prevent the incidence of severe thrombosis.
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Hang
authors.initials: H
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Qianlong
authors.initials: Q
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Jinxing
authors.initials: J
authors.lastname: Yu
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Xi
authors.initials: X
authors.lastname: Chen
authors.affiliation: Center of Adult Cardiac Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Liu
authors.affiliation: Center of Adult Cardiac Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Ge
authors.initials: G
authors.lastname: Gao
authors.affiliation: Center of Adult Cardiac Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China. Electronic address: heartcenter_song@hotmail.com.
authors.forename: Yunhu
authors.initials: Y
authors.lastname: Song
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China. Electronic address: zhouzhou@fuwaihospital.org.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
mesh_terms: D000328:Adult; D001798:Blood Proteins / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017293:Protein S; D018455:Protein S Deficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013927:Thrombosis / Q000209:etiology; D055815:Young Adult
chemical_list: D001798:Blood Proteins; C523390:PROS1 protein, human; D017293:Protein S
keywords: Gene mutation; Protein S; Risk factors; Thrombosis