A unique combination of inhibitory and partially activating mutations in β3 of a patient with variant-type Glanzmann thrombasthenia

Platelets

Volumn 21, Issue 6, 2010, Pages 498-500

  Nurden, Alan T ^a   Fernandes, Helder ^a   Fiore, Mathieu ^a   Nurden, Paquita ^a   Vinciguerra, Christine ^b,c   Martins, Nathalie ^d   Sirvain Trukniewicz, Peggy ^d   Couloux, Arnaud ^d   Heilig, Roland ^d   Pillois, Xavier ^a  

^a Ctr Geriatrie Ctr Hosp Univ B   (France)

^b UNIVERSITÉ LYON 1   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CODON; EXON; GENE SEQUENCE; GLANZMANN DISEASE; HETEROZYGOSITY; HUMAN; LETTER; MEGAKARYOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

HUMANS; INTEGRIN BETA3; MALE; MUTATION; THROMBASTHENIA;

EID: 77955882746     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.3109/09537101003771528     Document Type: Letter

References (15)

1. Nurden AT, Ruan J, Pasquet J-M, Gauthier B, Combrié R, Kunicki T, Nurden P. A novel 196Leu to Pro substitution in the b3 subunit of the αIIbb3 integrin in a patient with a variant form of Glanzmann thrombasthenia. Platelets 2002;13: 101-111.
2. Nurden A, Jacquelin B, Tuleja E, Combrie R, Nurden P. Reduced collagen-induced platelet aggregation in obligate heterozygotes of a Glanzmann thrombasthenia variant with a b3 mutation. Thromb Haemost 2002;88:364-365.
3. Morel-Kopp M-C, Lecompte T, Schlegel N, Hivert P, Kaplan C.Use of murine monoclonal antibodies to study thrombopathies related to GP IIb/IIIa complexes, In: Kaplan-Gouet C, Schlegel N, Salmon C, McGregor J, editors. Platelet immunology: clinical and fundamental aspects. Paris: John Libbey; 1991, 161-171.
4. Morel-Kopp M-C, Melchior C, Chen P, Ammerlaan W, Lecompte T, Kaplan C, Kieffer N. A naturally occurring point mutation in the b3 integrin MIDAS-like domain affectsvb3 and IIbb3 receptor function. Thromb Haemost 2001;86:1425-1434.
5. Ririe KM, Rasmussen RP, Wittwer CT. Product differentiation by analysis of DNA melting curves during the polymerase chain reaction. Anal Biochem 1997;245:154-160.
6. Schlegel N, Chen P, Binard S, Maisonneuve P, Rosa JP, Kieffer N, Caen JP. Type II Glanzmann thrombasthenia (GT) in a compound heterozygote for the glycoprotein (GP) IIIa gene associating two novel mutations, a stop codon (Arg216) and a Cys598Tyr substitution in mature GPIIIa. Blood 1999;94(Suppl 1):451a.
7. Caen JP, Castaldi PA, Leclerc JC, Inceman S, Larrieu MJ, Probst M, Bernard J. Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann's thrombasthenia. Am J Med 1966;41:4-26.
8. Nurden AT, Caen JP. An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. Br J Haematol 1974;28:253-260.
9. Hagen I, Nurden AT, Bjerrum OJ, Solum NO, Caen JP. Immunochemical evidence for protein abnormalities from patients with Glanzmann's thrombasthenia and Bernard- Soulier syndrome. J Clin Invest 1980;65:22-29.
10. Lee H, Nurden AT, Thomaidis A, Caen JP. Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann thrombasthenia type I and type II. Br J Haematol 1981;48:47-57.
11. Nurden AT, Didry D, Kieffer N, McEver RP. Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia. Blood 1985;65:1021-1024.
12. Chen P, Melchior C, Brons NHC, Schlegel N, Caen JC, Kieffer N. Probing conformational changes in the I-like domain and the cysteine-rich repeat of human b3 integrins following disulfide bond disruption by cysteine mutations. Identification of cysteine 598 involved in IIbb3 activation. J Biol Chem 2001;276: 42: 38628-38635.
13. Mor-Cohen R, Rosenberg N, Landau N, Lahav J, Seligsohn U. Specific cysteines in b3 are involved in disulfide bond exhange-dependent and -independent activation of αIIbb3. J Biol Chem 2008;283:19235-19244.
14. Mitchell WB, Li J, Murcia M, Valentin N, Newman PJ, Coller BS. Mapping early conformational changes in alphaIIb and beta3 during biogenesis reveals a potential mechanism for alphaIIbbeta3 adopting its bent conformation. Blood 2007;109:3725-3732.
15. George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: The spectrum of clinical disease. Blood 1990;75: 1383-1395.