Key result
A heterozygous mutation c.166C>T in exon 2 of SERPINC1 (Antithrombin Rouen IV) was identified in a 44-year-old Polish man with deep vein thrombosis.
Case Report (n=1)
This case report identifies the first instance of the Antithrombin Rouen IV mutation (c.166C>T in SERPINC1) in a Polish patient with deep vein thrombosis.
Answers are grounded in this paper and cite their sources.
Identifies first Polish case of Antithrombin Rouen IV; leaves open its prevalence and screening implications in Eastern European DVT.
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 .
No takes yet. Share an insight, caveat, or question.
Brutkowski et al. (2015) conducted a case report in Deep vein thrombosis and antithrombin deficiency (n=1). Antithrombin Rouen IV mutation (c.166C>T in exon 2 of SERPINC1) was evaluated on Identification of genetic mutation. A heterozygous mutation c.166C>T in exon 2 of SERPINC1 (Antithrombin Rouen IV) was identified in a 44-year-old Polish man with deep vein thrombosis.
Synapse has enriched 10 related papers. Consider them for comparative context: