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Molecular basis for protein C hereditary deficiency

M Aiach1, S Gandrille

  • 1Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Université René Descartes, Paris, France.

Haemostasis
|October 1, 1996
PubMed
Summary

Hereditary protein C deficiency presents variably, with severe thrombosis in homozygous cases and moderate disease in heterozygotes. Genetic factors and mutations influence clinical severity and protein function.

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Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Hereditary protein C deficiency is a genetic disorder associated with an increased risk of thrombosis.
  • Clinical manifestations range from severe neonatal purpura fulminans to recurrent venous thromboembolism in adults.

Purpose of the Study:

  • To investigate the spectrum of mutations causing hereditary protein C deficiency in the French population.
  • To correlate genotype with phenotype and identify factors contributing to the variable clinical presentation.

Main Methods:

  • Mutation screening in 90 families with protein C deficiency.
  • Analysis of protein C levels and functional assays.
  • Investigation of co-occurrence with Factor V Leiden mutation.

Main Results:

  • Identified 53 distinct mutations in the protein C gene.
  • Demonstrated that the amount of functional protein C produced by the mutant allele influences clinical severity.
  • Observed that the Arg 506 to Gln factor V mutation is present in 10-20% of symptomatic protein C deficient patients.
  • Found that some mutations result in non-functional circulating protein C, particularly those in the GLA and serine protease domains.

Conclusions:

  • The genetic basis of hereditary protein C deficiency is diverse, with numerous mutations identified.
  • Variable clinical expression is influenced by the specific mutation, residual protein C activity, and potentially other genetic factors.
  • Understanding these mutations is crucial for accurate diagnosis and management of thrombotic risk.

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