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Protein C deficiency in a family with thromboembolism and identified gene mutations

Sakuo Hoshi1, Minako Hijikata, Yuuki Togashi

  • 1Respiratory Medicine, JR Tokyo General Hospital. sakuchin@sannet.ne.jp

Internal Medicine (Tokyo, Japan)
|July 3, 2007
PubMed

Insights

Hereditary protein C deficiency increases thromboembolism risk. This study identifies novel mutations, including C-154T promoter polymorphism, linked to familial pulmonary thromboembolism cases.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Protein C is a critical anticoagulant, and its deficiency elevates thromboembolism risk.
  • Genetic mutations are increasingly identified as causes of protein C deficiency.

Observation:

  • This study investigated familial cases of thromboembolism.
  • Three nucleotide substitutions were identified in affected family members.

Findings:

  • A previously reported Arg169Trp missense mutation was found.
  • Two novel polymorphisms, C-154T promoter polymorphism (rs1799808) and Ser99Ser synonymous polymorphism (rs5936), were identified.
  • The C-154T and Ser99Ser polymorphisms were present in the mother, while all three mutations were found in the patient and his father.

Implications:

  • These findings contribute to understanding the genetic basis of protein C deficiency.
  • Identifying these mutations may aid in diagnosing and managing hereditary thromboembolism risk.
  • Further research is needed to elucidate the functional impact of the C-154T promoter polymorphism.

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