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Antithrombin-p.Ala416Pro: the second reported case in Japan.

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Recurrent deep vein thrombosis in a family was linked to a novel antithrombin (AT) gene mutation. This AT-p.Ala416Pro mutation caused type IIa AT deficiency, affecting heparin cofactor activity.

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Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Recurrent deep venous thrombosis (DVT) can be associated with inherited thrombophilias.
  • Antithrombin (AT) deficiency is a rare genetic disorder predisposing individuals to venous thromboembolism.
  • Type IIa AT deficiency is characterized by normal AT antigen levels but reduced heparin cofactor activity.

Purpose of the Study:

  • To investigate the genetic basis of recurrent deep venous thrombosis in a family with suspected antithrombin deficiency.
  • To identify the specific mutation responsible for type IIa AT deficiency within the family.

Main Methods:

  • Clinical evaluation of patients with recurrent DVT.
  • Assay of antithrombin (AT) antigen and heparin cofactor activity levels.
  • Genetic analysis of the AT gene, including nucleotide sequencing of exon 7.

Main Results:

  • The affected family members exhibited low AT heparin cofactor activity with normal AT antigen levels.
  • A novel single nucleotide substitution (c.1246 G>C) in exon 7 of the AT gene was identified, leading to the p.Ala416Pro mutation.
  • This AT-p.Ala416Pro mutation was present in affected individuals (father, aunt, patient) but not in an unaffected sister.

Conclusions:

  • The identified AT-p.Ala416Pro mutation is the causative genetic defect for type IIa AT deficiency in this family.
  • This mutation impairs AT's heparin cofactor activity, leading to an increased risk of venous thrombosis.
  • Genetic testing is crucial for diagnosing inherited thrombophilias and guiding family screening.