Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency. Issue 1 (January 2015)

• Record Type: Journal Article
• Authors: Cieśla, Marek; Wypasek, Ewa; Corral, Javier; Alhenc-Gelas, Martine; Undas, Anetta
• Is Part Of: Blood coagulation and fibrinolysis. Volume 26:Issue 1(2015)
• Publication Date: 2015-01
• Subjects: antithrombin deficiency -- mutation -- SERPINC1 -- venous thromboembolism; Blood -- Coagulation -- Periodicals; Fibrinolysis -- Periodicals; Hemostasis -- Periodicals; Thrombosis -- Periodicals; Blood Coagulation -- Periodicals; Fibrinolysis -- Periodicals; Hemostasis -- Periodicals; Thrombosis -- Periodicals; 612.115
• DOI: 10.1097/MBC.0000000000000182
• Languages: English
• ISSNs: 0957-5235

Abstract

Abstract : Type I antithrombin deficiency is an autosomal dominant disorder associated with thromboembolic complications mainly related to single-point mutations in SERPINC1, the gene encoding antithrombin. Chromosomal rearrangements have been found in up to 10% of cases with type I antithrombin deficiency. We report here the first heterozygous deletion of SERPINC1 exon 1 identified in a 44-year-old man with type I deficiency who developed deep vein thrombosis of the left leg complicated by pulmonary embolism. This study demonstrates that the search for large gene rearrangements in SERPINC1 can be a useful diagnostic approach, particularly in patients with type I antithrombin deficiency without mutations in SERPINC1.