The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation

Blood

Volumn 113, Issue 14, 2009, Pages 3348-3351

  Jackson, Shannon C ^a,b   Sinclair, Gary D ^a,c   Cloutier, Stephanie ^d   Duan, Zhaoxia ^a,b   Rand, Margaret L ^e,f   Poon, Man Chiu ^a,b,g  

^a UNIVERSITY OF CALGARY   (Canada)

^b CALGARY HEALTH REGION   (Canada)

^c CALGARY LABORATORY SERVICES   (Canada)

^d LAVAL UNIVERSITY   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; RISTOCETIN; VON WILLEBRAND FACTOR;

ARTICLE; BLOOD CLOTTING; BLOOD CLOTTING DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EPISTAXIS; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MONTREAL PLATELET SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE;

EID: 65349156985     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-06-165233     Document Type: Article

References (26)

1. Lacombe M, D'Angelo G. Etudes sur une thrombopathie familiale. Nouv Rev Fr Hematol. 1963;3: 611-614.
2. Milton JG, Frojmovic MM. Shape-changing agents produce abnormally large platelets in a hereditary "giant platelets syndrome (MPS)." J Lab Clin Med. 1979;93:154-161.
3. Milton JG, Hutton RA, Tuddenham EGD, Frojmovic MM. Platelet size and shape in hereditary giant platelet syndromes on blood smear and in suspension: evidence for two types of abnormalities. J Lab Clin Med. 1985;106:326-335.
4. Loffredo G, Baronciani L, Noris P, Menna F, Federici AB, Balduini CL. Von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenia with giant platelets. Platelets. 2006;17:149-152.
5. Lopez-Fernandez MF, Lopez-Berges C, Martin Bernal JA, et al. Type IIB von Willebrand's disease associated with a complex thrombocytopenic thrombocytopathy. Am J Hematol. 1988;27: 291-298.
6. Moll S, Lazarowski AR, White GC II. Giant platelet disorder in a patient with type 2B von Willebrand's disease. Am J Hematol. 1998;57: 62-67.
7. Saba HI, Saba SR, Dent JA, Ruggeri ZM, Zimmerman TS. Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytope- nia, circulating platelet aggregates, and spontaneous platelet aggregation. Blood. 1985;66:282-286.
8. Nurden P, Chretien F, Poujol C, Winckler J, Borel- Derlon A, Nurden A. Platelet ultrastructural abnormalities in three patients with type 2B von Wille- brand disease. Br J Haematol. 2000;110:704-714.
9. Gralnick HR, Williams SB, McKeown LP, Rick ME. von Willebrand's disease with spontaneous platelet aggregation induced by an abnormal plasma von Willebrand factor. J Clin Invest. 1985;76:1522-1529.
10. Nurden AT, Nurden P. Inherited thrombocytopenias. Haematologica. 2007;92:1158-1164.
11. Ruggeri ZM. Type IIbvon Willebrand disease: a paradox explains how von Willebrand factor works. J Thromb Haemost. 2003;2:2-6.
12. Ruggeri ZM, Pareti FI, Mannucci PM, Ciavarella N, Zimmerman TS. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. N Engl J Med. 1980;302:1047-1051.
13. Ruggeri ZM, Zimmerman TS. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest. 1980;65:1318-1325.
14. Randi AM, Rabinowitz I, Mancusco DJ, Mannucci PM, Sadler JE. Molecular basis of von Willebrand disease type IIB: Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. J Clin Invest. 1991;87:1220-1226.
15. James P, Lillicrap D. Genetic testing for von Willebrand disease: the Canadian experience. Semin Thromb Hemost. 2006;32:546-552.
16. Milton JG, Frojmovic MM, Tang SS, White JG. Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). Am J Pathol. 1984;114:336-345.
17. Battle J, Lopez-Fernandez MF, Lopez-Berges C, Lopez-Borrasca A. Electroblotting of factor FVIII/ von Willebrand factor multimers after electro- phoresis in SDS-agarose gel, discontinuous buffer system. Br J Haematol. 1983;55:195-196.
18. Hampshire D. University of Sheffield ISTH VWF SSC Information. http://www.vwf.group.she- f.ac.uk. Accessed June 6, 2008.
19. Kroner P, Kluessendorf ML, Scott PL, Montgomery R. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets. Blood. 1992;79:2048-2055.
20. Lillicrap D, Murray EW, Benford K, et al. Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with IIB von Willebrand's disease. Br J Haematol. 1991;79:612-617.
21. Casana P, Martinez F, Espinos C, Haya S, Lorenzo JI, Aznar JA. Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants. Am J Hematol. 1998;59:57-63.
22. Murray EW, Giles AR, Lillicrap D. Germ-Line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Wil- lebrand disease. Am J Hum Genet. 1992;50:199-207.
23. Rendal E, Penas N, Larrabeiti B, et al. Type2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship. Ann Hematol. 2001;80:354-360.
24. Nurden P, Debili N, Vainchenker W, et al. Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood. 2006;108:2587-2595.
25. Okita JR, Frojmovic MM, Kristopeit S, Wong T, Kunicki TJ. Montreal platelet syndrome: a defect in calpain-activated neutral proteinase (Calpain). Blood. 1989;74:715-721.
26. Federici AB, Mannucci PM, Castaman G, et al. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood. Prepublished on September 19, 2008, as doi:10.1182/blood-2008-04-152280.