Identification of two point mutations associated with inherited antithrombin deficiency

Cooper PC, Coath F, Daly ME, Makris M. The phenotypic and genetic assessment of antithrombin deficiency. Int J Lab Hematol. 2011;33:227–37.

Article  CAS  PubMed  Google Scholar 

Corral J, de la Morena-Barrio ME, Vicente V. The genetics of antithrombin. Thromb Res. 2018;169:23–9.

Article  CAS  PubMed  Google Scholar 

Khor B, Van Cott EM. Laboratory tests for antithrombin deficiency. Am J Hematol. 2010;85:947–50.

Article  PubMed  Google Scholar 

Bjork I, Olson ST. Antithrombin. A bloody important serpin. Adv Exp Med Biol. 1997;425:17–33.

CAS  PubMed  Google Scholar 

Brennan SO, George PM, Jordan RE. Physiological variant of antithrombin-III lacks carbohydrate sidechain at asn 135. FEBS Lett. 1987;219:431–6.

Article  CAS  PubMed  Google Scholar 

Refaei M, Xing L, Lim W, Crowther M, Boonyawat K. Management of venous thromboembolism in patients with Hereditary Antithrombin Deficiency and pregnancy: Case Report and Review of the literature. Case Rep Hematol. 2017;2017:9261351–9261351.

PubMed  PubMed Central  Google Scholar 

Maclean PS, Tait RC. Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. Drugs. 2007;67:1429–40.

Article  CAS  PubMed  Google Scholar 

Reitsma PH. Genetics in Thrombophilia. Update Hamostaseologie. 2015;35:47–51.

Article  PubMed  Google Scholar 

Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia. 2008;14:1229–39.

Article  CAS  PubMed  Google Scholar 

Tait RC, Walker ID, Perry DJ, Islam SI, Daly ME, McCall F, Conkie JA, Carrell RW. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol. 1994;87:106–12.

Article  CAS  PubMed  Google Scholar 

Di Minno MN, Ambrosino P, Ageno W, Rosendaal F, Di Minno G, Dentali F. Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies. Thromb Res. 2015;135:923–32.

Article  PubMed  Google Scholar 

Sokol J, Timp JF, le Cessie S, van Hylckama-Vlieg A, Rosendaal FR, Kubisz P, Cannegieter SC, Lijfering WM. Mild antithrombin deficiency and risk of recurrent venous thromboembolism: results from the MEGA follow-up study. J Thromb Haemost. 2018;16:680–8.

Article  CAS  PubMed  Google Scholar 

Van Cott EM, Orlando C, Moore GW, Cooper PC, Meijer P, Marlar R. Subcommittee on plasma coagulation I: recommendations for clinical laboratory testing for antithrombin deficiency; communication from the SSC of the ISTH. J Thromb Haemost. 2020;18:17–22.

Article  PubMed  Google Scholar 

Kovacs B, Bereczky Z, Selmeczi A, Gindele R, Olah Z, Kerenyi A, Boda Z, Muszbek L. Progressive chromogenic anti-factor xa assay and its use in the classification of antithrombin deficiencies. Clin Chem Lab Med. 2014;52:1797–806.

Article  CAS  PubMed  Google Scholar 

Fitches AC, Appleby R, Lane DA, De Stefano V, Leone G, Olds RJ. Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. Blood. 1998;92:4671–6.

Article  CAS  PubMed  Google Scholar 

Picard V, Chen JM, Tardy B, Aillaud MF, Boiteux-Vergnes C, Dreyfus M, Emmerich J, Lavenu-Bombled C, Nowak-Gottl U, Trillot N, et al. Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency. Hum Genet. 2010;127:45–53.

Article  PubMed  Google Scholar 

Puurunen M, Salo P, Engelbarth S, Javela K, Perola M. Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. J Thromb Haemost. 2013;11:1844–9.

Article  CAS  PubMed  Google Scholar 

Orlando C, Heylen O, Lissens W, Jochmans K. Antithrombin heparin binding site deficiency: a challenging diagnosis of a not so benign thrombophilia. Thromb Res. 2015;135:1179–85.

Article  CAS  PubMed  Google Scholar 

Gindele R, Olah Z, Ilonczai P, Speker M, Udvari A, Selmeczi A, Pfliegler G, Marjan E, Kovacs B, Boda Z, et al. Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort. J Thromb Haemost. 2016;14:704–15.

Article  CAS  PubMed  Google Scholar 

Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, Chandy M, Dahlback B, Ginter EK, Miletich JP, et al. Inherited thrombophilia: part 1. Thromb Haemost. 1996;76:651–62.

Article  CAS  PubMed  Google Scholar 

Kamijima S, Sekiya A, Takata M, Nakano H, Murakami M, Nakazato T, Asakura H, Morishita E. Gene analysis of inherited antithrombin deficiency and functional analysis of abnormal antithrombin protein (N87D). Int J Hematol. 2018;107:490–4.

Article  CAS  PubMed  Google Scholar 

Kovac M, Mitic G, Mikovic Z, Mandic V, Miljic P, Mitrovic M, Tomic B, Bereczky Z. The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications. Thromb Res. 2019;173:12–9.

Article  CAS  PubMed  Google Scholar 

Kovac M, Ignjatovic V, Orlando C, Bereczky Z, Hunt BJ. The use of direct oral anticoagulants in the secondary prevention of venous thromboembolism in patients with severe thrombophilia: communication from the ISTH SSC Subcommittee on physiological anticoagulants and Thrombophilia. J Thromb Haemost 2024;22:3322-3329.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017;136:665–77.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang H, Liu S, Luo S, Jin Y, Yang L, Xie H, Pan J, Wang M. Two novel mutations cause Hereditary Antithrombin Deficiency in a Chinese family. Acta Haematol. 2020;143:260–5.

Article  CAS  PubMed  Google Scholar 

Li W, Johnson DJ, Esmon CT, Huntington JA. Structure of the antithrombin-thrombin-heparin ternary complex reveals the antithrombotic mechanism of heparin. Nat Struct Mol Biol. 2004;11:857–62.

Article  CAS  PubMed  Google Scholar 

Kim HJ, Seo JY, Lee KO, Bang SH, Lee ST, Ki CS, Kim JW, Jung CW, Kim DK, Kim SH. Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. Haematologica. 2014;99:561–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ding Q, Wang M, Xu G, Ye X, Xi X, Yu T, Wang X, Wang H. Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients. Thromb Res. 2013;132:367–73.

Article  CAS  PubMed  Google Scholar 

Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Rev. 1996;10:59–74.

Article  CAS  PubMed  Google Scholar 

van Boven HH, Lane DA. Antithrombin and its inherited deficiency states. Semin Hematol. 1997;34:188–204.

PubMed  Google Scholar 

Aguila S, Noto R, Luengo-Gil G, Espin S, Bohdan N, de la Morena-Barrio ME, Penas J, Rodenas MC, Vicente V, Corral J et al. N-Glycosylation as a Tool to study Antithrombin Secretion, conformation, and function. Int J Mol Sci 2021;22:516.

Aguila S, Izaguirre G, Martinez-Martinez I, Vicente V, Olson ST, Corral J. Disease-causing mutations in the serpin antithrombin reveal a key domain critical for inhibiting protease activities. J Biol Chem. 2017;292:16513–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beauchamp NJ, Pike RN, Daly M, Butler L, Makris M, Dafforn TR, Zhou A, Fitton HL, Preston FE, Peake IR, Carrell RW. Antithrombins Wibble and Wobble (T85M/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation. Blood. 1998;92:2696–706.

Article 

留言 (0)

沒有登入
gif