A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene

Paquita Nurden; François Lanza; Cécile Bonnafous-Faurie; Alan Nurden

doi:10.1160/TH06-10-0579

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2007; 97(02): 319-321
DOI: 10.1160/TH06-10-0579

Case Report

Schattauer GmbH

A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene

Paquita Nurden

¹Centre de Référence des Pathologies Plaquettaires/Institut Fédératif de Recherche 4, Plate-forme d’Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France

,

François Lanza

²INSERM U311, EFS-Alsace, ULP, Strasbourg, France

,

Cécile Bonnafous-Faurie

¹Centre de Référence des Pathologies Plaquettaires/Institut Fédératif de Recherche 4, Plate-forme d’Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France

,

Alan Nurden

¹Centre de Référence des Pathologies Plaquettaires/Institut Fédératif de Recherche 4, Plate-forme d’Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France

› Author Affiliations

Abstract

Full Text

References

References
1 Miller JL. Platelet-type von Willebrand disease. Clin Lab Med 1984; 4: 319-331.
2 Sadler JE, Blinder M. von Willebrand disease : Diagnosis, classification, and treatment. In: Hemostasis and Thrombosis. Basic Principles and Clinical Practice Philadelphia. Lippincott; Williams & Wilkins: 2001: 825-837.
3 Miller JL, Cunningham D, Lyle VA. et al. Mutation in the gene encoding the α chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci USA 1991; 88: 4761-4765.
4 Russell SD, Roth GJ. Pseudo-von Willebrand disease : a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. Blood 1993; 81: 1787-1.
5 Takahashi H, Murata M, Moriki T. et al. Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease. Blood 1995; 85: 727-733.
6 Matsubara Y, Murata M, Sugita K. et al. Identification of a novel point mutation in platelet glycoprotein Ibα, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. J Thromb Haemost 2003; 1: 2198-2205.
7 Othman M, Notley C, Lavender FL. et al. Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood 2005; 105: 4330-4336.
8 Meyer D, Fressinaud E, Gaucher C. et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on molecular abnormalities in von Willebrand disease. Thromb Haemost 1997; 78: 451-456.
9 Strassel C, David T, Eckly A. et al. Synthesis of GPIbα with a novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells. J Thromb Haemost 2006; 4: 217-228.
10 Dong J-F, Schade AJ, Romo GM. et al. Novel gainof- function mutations of platelet glycoprotein Ib? by valine mutagenesis in the Cys209-Cys248 disulfide loop. Functional analysis under static and flow conditions. J Biol Chem 2000; 275: 27663-27670.
11 Huizinga EG, Tsuji S, Romijn RAP. et al. Structures of glycoprotein Ib α and its complex with von Willebrand factor A1 domain. Science 2002; 297: 1176-1179.
12 Uff S, Clemetson JM, Harrison T. et al. Crystal structure of the platelet glycoprotein Ib α N-terminal domain reveals an unmasking mechanism for receptor activation. J Biol Chem 2002; 277: 35657-35663.
13 Giles AR, Hoogendorm H, Benford K. Type 2B von Willebrand disease presenting as thrombocytopenia during pregnancy. Br J Haematol 1987; 67: 349-353.
14 Pareti FI, Federici AB, Cattaneo M. et al. Spontaneous platelet aggregation during pregnancy in a patient with von Willebrand disease type IIB can be blocked by monoclonal antibodies to both platelet glycoproteins Ib and IIb/IIIa. Br J Haematol 1990; 75: 86-91.
15 Vincentelli A, Susen S, Le Tourneau T et al. Acquired von Willebrand syndrome in aortic stenosis. New Engl J Med 2003; 349: 343-349.
16 Takahashi H, Handa M, Watanabe K. et al. Further characterization of platelet-type von Willebrand’s disease in Japan. Blood 1984; 64: 1254-1262.
17 Enayat MS, Guilliatt AM, Lester W. et al. Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. Br J Haematol 2006; 133: 664-666.
18 Nurden P, Debili N, Vainchenker W. et al. Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood 2006; 108: 2587-2595.
19 Nurden P, Chretien F, Poujol C. et al. Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. Br J Haematol 2000; 110: 704-714.
20 Bryckaert MC, Pietu G, Ruan C. et al. Abnormality of glycoprotein Ib in two cases of pseudo-von Willebrand’s disease. J Lab Clin Med 1985; 10: 393-400.