Antithrombin Rouen IV mutation in Polish patient with deep vein thrombosis

Abstract

Antithrombin (AT) deficiency is a rare autosomal dominant disorder which increases the risk of venous thromboembolism (VTE). We report here the case of type II antithrombin deficiency in 44-year-old man who developed left leg deep vein thrombosis (DVT). All exons of SERPINC1, the gene encoding AT were amplified by PCR followed by direct sequencing. A heterozygous mutation c.166C>T in exon 2 causing the amino acid substitution of Arg to Cys at residue 56, was found. This mutation does not affect the folding and secretion of the protein, but impairs the heparin affinity, reducing the anticoagulant activity of AT.

To the best of our knowledge, this is a first report of AT type IIHBS deficiency related to Polish patient who experienced DVT.