Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to stop codon (TGA)

Int J Hematol. 1994 Dec;60(4):273-80.


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).

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Codon
  • Exons
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Myocardial Infarction / etiology*
  • Protein C / genetics*
  • Protein C Deficiency*
  • Sequence Analysis, DNA


  • Codon
  • Protein C