Protein-C Deficiency Found In A Patient With Acute Myocardial-Infarction - A Single-Base Mutation 157-Arg-(Cca) To Stop Codon-(Tga)

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).