Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) 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).
Nakagawa
K
K
Second Department of Medicine, Kyoto Prefectural University of Medicine, Japan.
Tsuji
H
H
Masuda
H
H
Kitamura
H
H
Nakahara
Y
Y
Ogasahara
Y
Y
Okajima
Y
Y
Sawada
S
S
Nakagawa
M
M
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
D003062:Codon; D011486:Protein C