Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency

作者：Ciesla Marek; Wypasek Ewa; Corral Javier; Alhenc Gelas Martine; Undas Anetta^*

来源：Blood Coagulation & Fibrinolysis, 2015, 26(1): 95-97.

DOI：10.1097/MBC.0000000000000182

• antithrombin deficiency
• mutation
• SERPINC1
• venous thromboembolism

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.

• 出版日期2015-1