Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 2, 2008, Pages 331-338

  Camilleri, Raymond S ^a   Cohen, H ^b   Mackie, I J ^a   Scully, M ^a   Starke, R D ^a   Crawley, J T B ^c   Lane, D A ^c   Machin, S J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

ADAMTS 13; C3178T; Missense mutation; R1060W; Thrombotic thrombocytopenic purpura

Indexed keywords

ARGININE; IMMUNOGLOBULIN G; METALLOPROTEINASE; MUTANT PROTEIN; TRYPTOPHAN; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CELL SECRETION; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FEMALE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PREGNANCY DISORDER; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOTIC THROMBOCYTOPENIC PURPURA; WILD TYPE;

EID: 38349100169     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.02846.x     Document Type: Article

References (34)

1. Cines DB, Konkle BA, Furlan M. Thrombotic thrombocytopenic purpura: A paradigm shift? Thromb Haemost 2000; 84: 528-35.
2. Furlan M, Robles R, Solenthaler M, Wassmer M, Sandoz P, Lämmle B. Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 1997; 89: 3097-103.
3. 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.
4. Dent JA, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci U S A 1990; 87: 6306-10.
5. Furlan M, Robles R, Lämmle 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.
6. Soejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nakagaki T, Nozaki C. A novel human metalloprotease synthesized in the liver and secreted into the blood: Possibly, the von Willebrand factor-cleaving protease? J Biochem (Tokyo) 2001; 130: 475-80.
7. Gerritsen HE, Robles R, Lämmle B, Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood 2001; 98: 1654-61.
8. Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS-13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-63.
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 JD, Ginsburg D, Tsai HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-94.
10. Lämmle B, Kremer Hovinga JA, Alberio L. Thrombotic thrombocytopenic purpura. J Thromb Haemost 2005; 3: 1663-75.
11. Plaimauer B, Fuhrmann J, Mohr G, Wernhart W, Bruno K, Ferrari S, Konetschny C, Antoine G, Rieger M, Scheiflinger F. Modulation of ADAMTS-13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. Blood 2006; 107: 118-25.
12. Schneppenheim R, Kremer Hovinga JA, Becker T, Budde U, Karpman D, Brockhaus W, Hrachovinová I, Korczowski B, Oyen F, Rittich S, von Rosen J, Tjønnfjord GE, Pimanda JE, Wienker TF, Lämmle B. A common origin of the 4143insA ADAMTS-13 mutation. Thromb Haemost 2006; 96: 3-6.
13. Donadelli R, Banterla F, Galbusera M, Capoferri C, Bucchioni S, Gastoldi S, Nosari S, Monteferrante G, Ruggeri ZM, Bresin E, Scheiflinger F, Rossi E, Martinez C, Coppo R, Remuzzi G, Noris M. In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS-13 in thrombotic thrombocytopenic purpura. Thromb Haemost 2006; 96: 454-64.
14. Scully M, Gattens M, Khair K, Liesner R. The use of intermediate purity factor VIII concentrate BPL 8Y as prophylaxis and treatment in congenital thrombotic thrombocytopenic purpura. Br J Haematol 2006; 135: 101-4.
15. Furlan M, Lämmle 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.
16. Peyvandi F, Ferrari S, Lavoretano S, Canciani MT, Mannucci PM. von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura. Br J Haematol 2004; 127: 433-9.
17. Coppo P, Wolf M, Veyradier A, Bussel A, Malot S, Millot GA, Daubin C, Bordessoule D, Pene F, Mira JP, Heshmati F, Maury E, Guidet B, Boulanger E, Galicier L, Parquet N, Vernant JP, Rondeau E, Azoulay E, Schlemmer B. Prognostic value of inhibitory anti-ADAMTS-13 antibodies in adult-acquired thrombotic thrombocytopenic purpura. Br J Haematol 2006; 132: 66-74.
18. 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. Identification of novel mutations in ADAMTS-13 in an adult patient with congenital thrombotic thrombocytopenic purpura. Blood 2004; 104: 2081-3.
19. 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 ADAMTS-13 deficiency and renal involvement. J Am Soc Nephrol 2005; 16: 1177-83.
20. Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio Mannucci P. Mechanisms of the interaction between two ADAMTS-13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat 2006; 27: 330-6.
21. Tao Z, Anthony K, Peng Y, Choi H, Nolasco L, Rice L, Moake JL, Dong JF. Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. J Thromb Haemost 2006; 4: 1931-5.
22. Allford SL, Hunt BJ, Rose P, Machin SJ. Guidelines on the diagnosis and management of the thrombotic microangiopathic haemolytic anaemias. Br J Haematol 2003; 120: 556-73.
23. Yarranton H, Lawrie AS, Mackie IJ, Pinkoski L, Corash L, Machin SJ. Coagulation factor levels in cryosupernatant prepared from plasma treated with amotosalen hydrochloride (S-59) and ultraviolet A light. Transfusion 2005; 45: 1453-8.
24. Gerritsen HE, Turecek PL, Schwarz HP, Lämmle B, Furlan M. Assay of von Willebrand factor (vWF)-cleaving protease based on decreased collagen binding affinity of degraded vWF: A tool for the diagnosis of thrombotic thrombocytopenic purpura (TTP). Thromb Haemost 1999; 82: 1386-9.
25. Zanardelli S, Crawley JT, Chion CK, Lam JK, Preston RJ, Lane DA. ADAMTS-13 substrate recognition of von Willebrand factor A2 domain. J Biol Chem 2006; 281: 1555-63.
26. Starke R, Machin S, Scully M, Purdy G, Mackie I. The clinical utility of ADAMTS-13 activity, antigen and autoantibody assays in thrombotic thrombocytopenic purpura. Br J Haematol 2007; 136: 649-55.
27. Scheiflinger F, Knöbl P, Trattner B, Plaimauer B, Mohr G, Dockal M, Dorner F, Rieger M. Nonneutralizing IgM and IgG antibodies to von Willebrand factor-cleaving protease (ADAMTS-13) in a patient with thrombotic thrombocytopenic purpura. Blood 2003; 102: 3241-3.
28. Chion CK, Doggen CJ, Crawley JT, Lane DA, Rosendaal FR. ADAMTS-13 and von Willebrand factor and the risk of myocardial infarction in men. Blood 2007; 109: 1998-2000.
29. Scully M, Starke R, Lee R, Mackie I, Machin S, Cohen H. Successful management of pregnancy in women with a history of thrombotic thrombocytopenic purpura. Blood Coagul Fibrinolysis 2006; 17: 459-63.
30. Camilleri RS, Mackie IJ, Scully M, Machin SJ, Cohen H. A genetic basis for adult onset TTP? Blood 2005; 106: 357a [abstract 1228].
31. Banno F, Kokame K, Okuda T, Honda S, Miyata S, Kato H, Tomiyama Y, Miyata T. Complete deficiency in ADAMTS-13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura. Blood 2006; 107: 3161-6.
32. Studt JD, Hovinga JA, Radonic R, Gasparovic V, Ivanovic D, Merkler M, Wirthmueller U, Dahinden C, Furlan M, Lämmle B. Familial acquired thrombotic thrombocytopenic purpura: ADAMTS-13 inhibitory autoantibodies in identical twins. Blood 2004; 103: 4195-7.
33. Studt JD, Hovinga JA, Antoine G, Hermann M, Rieger M, Scheiflinger F, Lämmle B. Fatal congenital thrombotic thrombocytopenic purpura with apparent ADAMTS-13 inhibitor: In vitro inhibition of ADAMTS-13 activity by hemoglobin. Blood 2005; 105: 542-4.
34. Ricketts LM, Dlugosz M, Luther KB, Haltiwanger RS, Majerus EM. O -fucosylation is required for ADAMTS-13 secretion. J Biol Chem 2007; 282: 17014-23.