Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin β3 gene as a cause of the absence of platelet αIIbβ3 in Glanzmann's thrombasthenia

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 1, 2005, Pages 68-73

  Tanaka, S ^a   Hayashi, T ^a   Yoshimura, K ^a   Nakayama, M ^b   Fujita, T ^b   Amano, T ^c   Tani, Y ^a  

^a OSAKA RED CROSS HOSPITAL   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c Ikeda Municipal Hospital   (Japan)

Author keywords

Integrin IIb 3; Missense mutation; Platelet; Thrombasthenia

Indexed keywords

ALPHA IIB BETA3 INTEGRIN; ALPHA INTEGRIN; ASPARAGINE; BETA3 INTEGRIN; HISTIDINE; ISOLEUCINE; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; FIBRINOGEN RECEPTOR; PRIMER DNA; PROLINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GENETIC DISORDER; GLANZMANN DISEASE; HETEROZYGOSITY; HUMAN; IMMUNOPRECIPITATION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; WESTERN BLOTTING; ANIMAL; CASE REPORT; CELL STRAIN COS1; GENE VECTOR; GENETIC TRANSFECTION; GENETICS; HETEROZYGOTE; METABOLISM; PEDIGREE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; ANIMALS; ASPARAGINE; BLOTTING, WESTERN; COS CELLS; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; FEMALE; FLOW CYTOMETRY; GENETIC VECTORS; HETEROZYGOTE; HISTIDINE; HUMANS; IMMUNOPRECIPITATION; INTEGRIN BETA3; ISOLEUCINE; MALE; MUTATION, MISSENSE; PEDIGREE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROLINE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; THROMBASTHENIA; TRANSFECTION;

EID: 20444443544     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00990.x     Document Type: Article

References (17)

1. Geroge JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
2. Calvete JJ. Clues for understanding the structure and function of a prototypic human integrin: the platelet glycoprotein IIb/IIIa complex. Thromb Haemost 1994; 72: 1-15.
3. Bray PF. Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization. Thromb Haemost 1994; 72: 492-502.
4. French DL, Coller BS. Hematologically important mutations: Glanzmann thrombasthenia. Blood Cell Mol Dis 1997; 23: 39-51.
5. French DL. The molecular genetics of Glanzmann's thrombasthenia. Platelets 1998; 9: 5-20.
6. Tomiyama Y. Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. Int J Hematol 2000; 72: 448-54.
7. Jennings LK, Ashmun RA, Wang WC, Dockter ME. Analysis of human platelet glycoproteins IIb-IIIa and Glanzmann's thrombasthenia in whole blood by flow cytometry. Blood 1986; 68: 173-9.
8. Baenzinger NL, Majerus PW. Isolation of human platelets and platelet surface membrane. Methods Enzymol 1974; 31: 149-55.
9. Sugawara K. Influence of Triton X-100 on protein determination by Lowry procedure. Agr Biol Chem 1975; 39: 2429-30.
10. Newman PJ, Gorski J, White GC 2nd, Gidwitz S, Cretney CJ, Aster RH. Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction. J Clin Invest 1988; 82: 739-43.
11. Zimrin AB, Gidwitz S, Lord S, Schwartz E, Bennett JS, White GC 2nd, Poncz M. The genomic organization of platelet glycoprotein IIIa. J Biol Chem 1990; 265: 8590-5.
12. Fitzgerald LA, Steiner B, Rall Jr SC, Lo S-S, Phillips DR. Protein sequence of endothelial glycoprotein IIIa derived from a cDNA clone. J Biol Chem 1987; 262: 3936-9.
13. Poncz M, Eisman R, Heidenreich R, Silver SM, Vilaire G, Surrey S, Schwartz E, Bennett JS. Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors. J Biol Chem 1987; 262: 8476-82.
14. Peyruchaud O, Bourre F, Morel-Kopp M-C, Reviron D, Mercier P, Nurden A, Kaplan C. HPA-10wb (Laa): genetic determination of a new platelet-specific alloantigen on glycoprotein IIIa and its expression in COS-7 cells. Blood 1997; 89: 2422-8.
15. Ambo H, Kamata T, Handa M, Taki M, Kuwajima M, Kawai Y, Oda A, Murata M, Takada Y, Watanabe K, Ikeda Y. Three novel integrin β3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients. Biochem Biophys Res Commun 1998; 251: 763-8.
16. Kato A, Yamamoto K, Miyazaki S, Jung SM, Moroi M, Aoki N. Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood 1992; 79: 3212-8.
17. Klausner RD, Sitia R. Protein degradation in the endoplasmic reticulum. Cell 1990; 62: 611-4.