title: Antithrombin Katowice: exon 1 deletion in the SERPINC1 gene associated with type I antithrombin deficiency.
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.
authors.affiliation: aJohn Paul II Hospital bInstitute of Cardiology, Jagiellonian University School of Medicine, Cracow, Poland cCentro Regional de Hemodonación, Universidad de Murcia, IMIB, Murcia, Spain dHématologie biologique, AP-HP Hôpital Européen G. Pompidou, Paris, France.
authors.forename: Marek
authors.initials: M
authors.lastname: Cieśla
authors.forename: Ewa
authors.initials: E
authors.lastname: Wypasek
authors.forename: Javier
authors.initials: J
authors.lastname: Corral
authors.forename: Martine
authors.initials: M
authors.lastname: Alhenc-Gelas
authors.forename: Anetta
authors.initials: A
authors.lastname: Undas
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D005091:Exons; D005337:Fibrin / Q000172:deficiency*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009154:Mutation; D011655:Pulmonary Embolism / Q000235:genetics
chemical_list: C542513:SERPINC1 protein, human; D000990:Antithrombin III; D005337:Fibrin