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Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T)

K S Song1, Y S Park, C R Choi

  • 1Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea.

Journal of Korean Medical Science
|June 4, 1998
PubMed

Insights

Hereditary protein C deficiency (PCD) increases thrombosis risk. This study identifies a novel genetic defect causing PCD in a Korean family, highlighting a potential mutation hotspot for the protein C gene.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Protein C is a key regulator of the anti-thrombotic pathway.
  • Hereditary protein C deficiency (PCD) is linked to a higher risk of thromboembolism.
  • Previous studies identified PCD-causing mutations in Western and Japanese populations.

Observation:

  • A 44-year-old female presented with recurrent pulmonary thromboembolism.
  • This patient exhibited reduced protein C activity (35%) and antigen levels (58%).
  • A missense mutation (C6218T) in the protein C gene was identified in the patient.

Findings:

  • The same C6218T missense mutation and PCD were found in asymptomatic family members, including the mother, two daughters, and one son.
  • This represents the first documented case of hereditary PCD with an identified genetic defect in the Korean population.
  • The findings suggest the protein C gene may be a hotspot for mutations in this demographic.

Implications:

  • This discovery expands the known genetic landscape of hereditary protein C deficiency.
  • It underscores the importance of genetic screening for PCD in at-risk populations.
  • Identifying mutation hotspots can aid in understanding disease prevalence and developing targeted diagnostic strategies.

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