title: [A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism].
abstract: OBJECTIVE
  To investigate the incidence of inherited protein C deficiency in the patients with venous thromboembolism (VTE).
  
  
  METHODS
  From Apr. of 2010 to Apr. of 2011, 106 patients with VTE totally from Renji hospital were surveyed by a series of laboratory tests including clinical biochemistry tests, coagulation factors activities and anticoagulation factors activities. PROC gene mutations were screened by PCR-direct sequencing in the 20 patients with decreased PC activity.
  
  
  RESULTS
  Among the 20 patients with decreased PC activity, the median activity of factor II, V, VII, VIII, IX, X, XI, XII were 97.0%, 199.9%, 105.5%, 254.7%, 106.4%, 150.4%, 123.1%, 89.9%, respectively.6 PROC gene mutations were found in 11 patients. Six patients have the same point mutation (c.565C > T), the other five mutations were c.508G > T, c.524G > A, c.1174G > A, c.1157T > C, c.577-579del. All of the six mutations were heterozygous, while the c.508G > T, c.524G > A and c.1157T > C were novel in the world.
  
  
  CONCLUSIONS
  In this study, we found that PC deficiency is the major inherited risk factor of VTE. The most common PROC mutation identified in this study was heterozygous c.565C > T missense mutation., c.508G > T, c.524G > A and c.1157T > C were novel PROC mutation. The activities of factor V and VIII were elevated dramatically among VTE patients, which may be correlated to the disease.
authors.affiliation: Department of Laboratory Medicine, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Shen
authors.forename: Yi
authors.initials: Y
authors.lastname: Gu
authors.forename: Lan
authors.initials: L
authors.lastname: Zhang
authors.forename: Ji-wei
authors.initials: JW
authors.lastname: Zhang
authors.forename: Chun-mei
authors.initials: CM
authors.lastname: Ying
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001779:Blood Coagulation Factors / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency / Q000150:complications / Q000235:genetics*; D054556:Venous Thromboembolism / Q000209:etiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D001779:Blood Coagulation Factors; D011486:Protein C