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Thromb Haemost 2012; 108(02): 401-403
DOI: 10.1160/TH11-11-0783
DOI: 10.1160/TH11-11-0783
Letters to the Editor
A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy
Authors
Further Information
Publication History
Received:
11 November 2011
Accepted after major revision:
13 April 2012
Publication Date:
25 November 2017 (online)
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References
- 1 Moake JL. et al. Unusually large plasma factor VIII:von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 1982; 307: 1432-1435.
- 2 Furlan M. et al. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996; 87: 4223-4234.
- 3 Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 1996; 87: 4235-4244.
- 4 Dent JA. et al. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA 1990; 87: 6306-6310.
- 5 Plaimauer B. et al. Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13). Blood 2002; 100: 3626-3632.
- 6 Soejima K. et al. A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease?. J Biochem 2001; 130: 475-480.
- 7 Zheng X. et al. Structure of von Willebrand factor-cleaving protease (ADAMTS- 13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-41063.
- 8 Levy GG. et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-494.
- 9 Cal S. et al. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. Gene 2002; 283: 49-62.
- 10 Peyvandi F. et al. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat 2006; 27: 330-336.
- 11 Donadelli R. et al. In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. Thromb Haemost 2006; 96: 454-464.
- 12 Tao Z. et al. Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. J Thromb Haemost 2006; 04: 1931-1935.
- 13 Camilleri RS. et al. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. J Thromb Haemost 2008; 06: 331-338.
- 14 Hommais A. et al. Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). Thromb Haemost 2007; 98: 593-599.
- 15 Shelat SG. et al. Molecular biology of ADAMTS13 and diagnostic utility of ADAMTS13 proteolytic activity and inhibitor assays. Semin Thromb Hemost 2005; 31: 659-672.
- 16 Kokame K, Miyata T. Genetic defects leading to hereditary thrombotic thrombocytopenic purpura. Semin Hematol 2004; 41: 34-40.
- 17 Shibagaki Y. et al. Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure. Nephrol Dial Transplant 2006; 21: 1289-1292.
- 18 Schneppenheim R. et al. A common origin of the 4143 insA ADAMTS13 mutation. Thromb Hae-most 2006; 96: 3-6.
- 19 Kokame K. et al. Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome. J Thromb Haemost 2008; 06: 213-215.
- 20 Lotta LA. et al. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat 2010; 31: 11-19.
- 21 Shomron N. et al. A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues. Thromb Haemost 2010; 104: 531-535.
- 22 Egerman RS. et al. Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome in pregnancy: review of 11 cases. Am J Obstet Gynecol 1996; 175: 950-956.
- 23 Angelo AD. et al. Thrombotic microangiopathy in pregnancy. Thromb Res 2009; 123: S56-S62.
- 24 Fujimura Y. et al. Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients. Br J Haematol 2009; 144: 742-754.
- 25 Taylor LD. The application of the biotin/avidin system to the von Willebrand factor antigen immunoassay. Thromb Haemost 1988; 59: 251-254.
- 26 Aihara M. et al. Visualization of von Willebrand factor multimers by immunoenzymatic stain using avidin-biotin peroxidase complex. Thromb Haemost 1986; 55: 263-267.
- 27 Bradford MM. A rapid and sensitive method for the quantification of micrograms quantities of protein utilizing the principle of protein dye binding. Anal Biochem 1976; 72: 248-254.
- 28 Pimanda JE. et al. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the CUB-2 domain of ADAMTS13. Blood 2004; 103: 627-629.
- 29 Antoine G. et al. ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. Br J Haematol 2003; 120: 821-824.
- 30 Plaimauer B. et al. Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. Blood 2006; 107: 118-125.