title: Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to stop codon (TGA).
abstract: Protein C has an important role in the regulatory mechanisms of coagulation and fibrinolysis. In patients with heterozygous protein C deficiency, there is an increased risk for thromboembolic disease, especially in the venous system. We describe a patient with protein C deficiency presenting with an acute myocardial infarction (AMI). Direct sequence analysis of the whole protein C gene detected a single base mutation at exon 7; 157 [Arg(CGA) to stop codon (TGA): 6182 C to T]. Thus, the patient was suspected to have a deficiency of the protein C heavy chain molecule, resulting in both a low protein C antigen and activity level. The mutation was also found in the propositus' son and was confirmed by differential termination of the primer extension (DTPE).
authors.affiliation: Second Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nakagawa
authors.forename: H
authors.initials: H
authors.lastname: Tsuji
authors.forename: H
authors.initials: H
authors.lastname: Masuda
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahara
authors.forename: Y
authors.initials: Y
authors.lastname: Ogasahara
authors.forename: Y
authors.initials: Y
authors.lastname: Okajima
authors.forename: S
authors.initials: S
authors.lastname: Sawada
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
mesh_terms: D001483:Base Sequence; D003062:Codon; D005091:Exons; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009203:Myocardial Infarction / Q000209:etiology*; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D011486:Protein C