Antithrombin Rybnik: A new point mutation (nt 683 G>T) associated with type i antithrombin deficiency in a patient with venous thromboembolism and recurrent superficial venous thrombosis

Blood Coagulation and Fibrinolysis

Volumn 24, Issue 5, 2013, Pages 579-580

  Szymańska, Magdalena ^a   Alhenc Gelas, Martine ^b   Undas, Anetta ^a,c  

^a Krakowski Szpital Specjalistyczny Im Jana Pawła II   (Poland)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^c JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ACENOCOUMAROL; ANTITHROMBIN; ANTITHROMBIN III; ENOXAPARIN;

ADULT; ANTICOAGULATION; ANTITHROMBIN DEFICIENCY; CASE REPORT; DEEP VEIN THROMBOSIS; FEMALE; GENETIC ASSOCIATION; HUMAN; INTERNATIONAL NORMALIZED RATIO; LETTER; LUNG EMBOLISM; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SUPERFICIAL THROMBOPHLEBITIS; VEIN THROMBOSIS; VENOUS THROMBOEMBOLISM;

ADULT; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; CESAREAN SECTION; FEMALE; HUMANS; POINT MUTATION; POLAND; RECURRENCE; VENOUS THROMBOEMBOLISM; VENOUS THROMBOSIS;

EID: 84879944753     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32835ef7b3     Document Type: Letter

References (13)

1. Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia 2008; 14:1229-1239.
2. Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Rev 1996; 10:59-74.
3. Bucciarelli P, Rosendaal FR, Tripodi A, Mannucci PM, De Stefano V, Palareti G, et al. Risk of venous thromboembolism and clinical manifestations in carriersofantithrombin, protein C, protein Sdeficiency, or activated protein C resistance: a multicenter collaborative family study. Arterioscler Thromb Vasc Biol 1999; 19:1026-1033.
4. Picard V, Nowak-Gö ttl U, Biron-Andreani C, Fouassier M, Frere C, Goualt-Heilman M, et al. Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene. Hum Mutat 2006; 27:600.
5. Celinska-Lowenhoff M, Iwaniec T, Alhenc-Gelas M, Musial J, Undas A. Arterial andvenousthrombosisand prothromboticfibrin clotphenotypein a Polish family with type 1 antithrombin deficiency (antithrombin Krakow). Thromb Haemost 2011; 106:379-381.
6. Celinska-Löwenhoff M, Iwaniec T, Alhenc-Gelas M, Musial J, Undas A. Antithrombin Krakow II (c.624+1 G > T): a novel mutation leading to type 1 antithrombin deficiency. Blood Coagul Fibrinolysis 2012; 23:454-455.
7. Szymańska M, Alhenc-Gelas M, Undas A. Recurrent ischemic cerebrovascular events in a patient with type I antithrombin deficiency caused by 9788 G>A splice site mutation: a case report. Blood Coagul Fibrinolysis doi:10.1097/MBC.0b013e 32835b 2467.
8. Ng PC, Henikoff S. SIFT: Predicting aminoacid changesthataffect protein function. Nucleic Acids Res 2003; 31:3812-3814.
9. Ramensky V, Bork P, Sunyaev S. Human nonsynonymous SNPs: serverand survey. Nucleic Acids Res 2002; 30:3894-3900.
10. Martinelli I, De Stefano V, Taioli E, Paciaroni K, Rossi E, Mannucci PM. Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperium. Thromb Haemost 2002; 87:791-795.
11. Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose-und Hamostaseforschung (GTH) Study Groupon Natural Inhibitors.Arterioscler Thromb Vasc Biol 1996; 16:742-748.
12. Lindqvist P, Dahlbäck B, Marŝál K. Thrombotic risk during pregnancy: a population study. Obstet Gynecol 1999; 94:595-599.
13. Milio G, Siragusa S, Malato A, Grimaudo S, Pinto A. Superficial venous thrombosis: role of inherited deficiency of natural anticoagulants in extension to deep veins. Int Angiol 2009; 28:298-302.