Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 9, 2006, Pages 1931-1935

  Tao, Z ^a   Anthony, K ^a   Peng, Y ^a   Choi, H ^a   Nolasco, L ^a   Rice, L ^a   Moake, J L ^a   Dong, Jing Fei ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

ADAMTS 13; Congenital TTP; Gene mutations; ITP

Indexed keywords

ARGININE; DISINTEGRIN; THROMBOSPONDIN; TRYPTOPHAN; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADULT; ADULTHOOD; AGE; ARTICLE; CASE REPORT; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; HELA CELL; HETEROZYGOSITY; HUMAN; HUMAN CELL; IDIOPATHIC THROMBOCYTOPENIC PURPURA; MALE; ONSET AGE; PLASMAPHERESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN SYNTHESIS INHIBITION; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADAM PROTEINS; ADULT; AGE OF ONSET; HETEROZYGOTE; HUMANS; MALE; MUTATION; POINT MUTATION; PURPURA, THROMBOCYTOPENIC; PURPURA, THROMBOTIC THROMBOCYTOPENIC; SEQUENCE DELETION;

EID: 33747155004     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.02098.x     Document Type: Article

References (25)

1. Moake JL. Thrombotic microangiopathies. N Engl J Med 2002; 347: 589-600.
2. Baker KR, Moake JL. Thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. Curr Opin Pediatr 2000; 12: 23-8.
3. Allford SL, Machin SJ. Current understanding of the pathophysiology of thrombotic thrombocytopenic purpura. J Clin Pathol 2000; 53: 497-501.
4. Moake JL, Rudy CK, Troll JH, Weinstein MJ, Colannino NM, Azocar J, Seder RH, Hong SL, Deykin D. Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 1982; 307: 1432-5.
5. Moake JL, Turner NA, Stathopoulos NA, Nolasco LH, Hellums JD. Involvement of large plasma von Willebrand factor (vWF) multimers and unusually large vWF forms derived from endothelial cells in shear stress-induced platelet aggregation. J Clin Invest 1986; 78: 1456-61.
6. Arya M, Anvari B, Romo GM, Cruz MA, Dong JF, McIntire LV, Moake JL, Lopez JA. Ultralarge multimers of von Willebrand factor form spontaneous high-strength bonds with the platelet glycoprotein Ib-IX complex: studies using optical tweezers. Blood 2002; 99: 3971-7.
7. Furlan M, Robles R, Lammle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996; 87: 4223-34.
8. Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 1996; 87: 4235-44.
9. Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw Jr JD, Ginsburg D, Tsai HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-94.
10. Dent JA, Galbusera M, Ruggeri ZM. Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit. J Clin Invest 1991; 88: 774-82.
11. Levy GG, Motto DG, Ginsburg D. ADAMTS13 turns 3. Blood 2005; 106: 11-7.
12. Shelat SG, Ai J, Zheng XL. Molecular biology of ADAMTS13 and diagnostic utility of ADAMTS13 proteolytic activity and inhibitor assays. Semin Thromb Hemost 2005; 31: 659-72.
13. Furlan M, Lammle B. Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: The role of von Willebrand factor-cleaving protease. Best Pract Res Clin Haematol 2001; 14: 437-54.
14. Wiznitzer A, Mazor M, Leiberman JR, Bar-Levie Y, Gurman G, Glezerman M. Familial occurrence of thrombotic thrombocytopenic purpura in two sisters during pregnancy. Am J Obstet Gynecol 1992; 166: 20-1.
15. Uchida T, Wada H, Mizutani M, Iwashita M, Ishihara H, Shibano T, Suzuki M, Matsubara Y, Soejima K, Matsumoto M, Fujimura Y, Ikeda Y, Murata M, Research Project on Genetics of Thrombosis. Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. Blood 2004; 104: 2081-3.
16. Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA 2002; 99: 11902-7.
17. Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-63.
18. Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, Lopez-Otin C. 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.
19. Turner NA, Nolasco L, Tao Z, Dong JF, Moake JL. Human Endothelial Cells Synthesize and Release ADAMTS-13. J Thromb Haemost 2006; 4: 1396-404.
20. Shibagaki Y, Matsumoto M, Kokame K, Ohba S, Miyata T, Fujimura Y, Fujita T. 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: 1289-92.
21. Dong JF, Moake JL, Nolasco L, Bernardo A, Arceneaux W, Shrimpton CN, Schade AJ, McIntire LV, Fujikawa K, Lopez JA. ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions. Blood 2002; 100: 4033-9.
22. Bernardo A, Ball C, Nolasco L, Moake JF, Dong JF. Effects of inflammatory cytokines on the release and cleavage of the endothelial cell-derived ultralarge von Willebrand factor multimers under flow. Blood 2004; 104: 100-6.
23. Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio PM. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat 2006; 27: 330-6.
24. Noris M, Bucchioni S, Galbusera M, Donadelli R, Bresin E, Castelletti F, Caprioli J, Brioschi S, Scheiflinger F, Remuzzi G. Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement. J Am Soc Nephrol 2005; 16: 1177-83.
25. Motto DG, Chauhan AK, Zhu G, Homeister J, Lamb CB, Desch KC, Zhang W, Tsai HM, Wagner DD, Ginsburg D. Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice. J Clin Invest 2005; 115: 2752-61.