title: Antithrombin Krakow II (c.624+1 G > T):  a novel mutation leading to type 1 antithrombin deficiency.
abstract: Hereditary antithrombin (AT) deficiency is a rare autosomal disease. More than 200 mutations have been described in the AT gene leading to its deficiency. We describe here a case of type I AT deficiency in a 26-year-old Polish man who experienced proximal deep vein thrombosis and pulmonary embolism associated with a transient thrombotic risk factor, the right ankle trauma, despite the use of low-molecular-weight heparin prophylaxis. The family history was negative for venous thromboembolism. The AT activity was initially 47% and on repeated analysis 53%, and the antigen level, 0.15 g/l. The analysis of AT gene revealed the presence at the heterozygous state of a substitution G more than T located at the first nucleotide 3' of exon 3a (c.624 + 1 G > T, Human Genome Variation Society numbering system). The substitution might be detrimental taking account for its position in a donor splice site. To the best of our knowledge this mutation has not been previously described, so it was named antithrombin Krakow II.
authors.affiliation: II Department of Internal Medicine, Jagiellonian University Medical College, Kraków, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Celinska-Löwenhoff
authors.forename: Teresa
authors.initials: T
authors.lastname: Iwaniec
authors.forename: Martine
authors.initials: M
authors.lastname: Alhenc-Gelas
authors.forename: Jacek
authors.initials: J
authors.lastname: Musial
authors.forename: Anetta
authors.initials: A
authors.lastname: Undas
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000008:administration & dosage; D005091:Exons; D005337:Fibrin / Q000172:deficiency / Q000235:genetics*; D006495:Heparin, Low-Molecular-Weight / Q000008:administration & dosage; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011655:Pulmonary Embolism / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D020246:Venous Thrombosis / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D000925:Anticoagulants; D006495:Heparin, Low-Molecular-Weight; D005337:Fibrin