title: Protein C deficiency in a family with thromboembolism and identified gene mutations.
abstract: Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169Trp, which was previously reported. The other two are C-154T promoter polymorphism (rs1799808 on dbSNP database), the function of which is unknown and Ser99Ser synonymous polymorphism (rs5936). All three mutations were found in a 24-year-old patient with pulmonary thromboembolism and his 54-year-old father who also had pulmonary thromboembolism. C-154T promoter polymorphism (rs1799808 on dbSNP database) and Ser99Ser synonymous polymorphism (rs5936) were found in the patient's mother.
authors.affiliation: Respiratory Medicine, JR Tokyo General Hospital. sakuchin@sannet.ne.jp
authors.forename: Sakuo
authors.initials: S
authors.lastname: Hoshi
authors.forename: Minako
authors.initials: M
authors.lastname: Hijikata
authors.forename: Yuuki
authors.initials: Y
authors.lastname: Togashi
authors.forename: Tetsuji
authors.initials: T
authors.lastname: Aoyagi
authors.forename: Chiyoko
authors.initials: C
authors.lastname: Kono
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Yamada
authors.forename: Hiroko
authors.initials: H
authors.lastname: Amano
authors.forename: Naoto
authors.initials: N
authors.lastname: Keicho
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Yamaguchi
mesh_terms: D000328:Adult; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D011655:Pulmonary Embolism / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D018570:Risk Assessment; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed
chemical_list: D011486:Protein C; D006493:Heparin