Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 11, 2009, Pages 1878-1885

  Kannan, M ^a   Ahmad, F ^a   Yadav, B K ^a   Kumar, R ^b   Choudhry, V P ^a   Saxena, R ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b INSTITUTE ROTARY CANCER HOSPITAL   (India)

Author keywords

Glanzmann thrombasthenia; Molecular defects; Mutation screening; Novel mutations

Indexed keywords

BETA3 INTEGRIN; FIBRINOGEN RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; FLOW CYTOMETRY; GEL ELECTROPHORESIS; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GLANZMANN DISEASE; GLANZMANN DISEASE TYPE 1; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDEL MUTATION; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICE SITE MUTATION; THROMBOCYTE AGGREGATION; THROMBOCYTE DISORDER; WESTERN BLOTTING;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; INFANT; INTEGRIN ALPHA2; INTEGRIN BETA3; MALE; MIDDLE AGED; MUTATION; PENETRANCE; PHENOTYPE; PLATELET AGGREGATION; THROMBASTHENIA; YOUNG ADULT;

EID: 70449399296     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03579.x     Document Type: Article

References (20)

1. Kannan M, Saxena R. Glanzmann's Thrombasthenia: an Overview. Clin Appl Thromb Hemost 2009, 15:152-65.
2. Salles II, Feys HB, Iserbyt BF, De Meyer SF, Vanhoorelbeke K, Deckmyn H. Inherited traits affecting platelet function. Blood Rev 2008, 22:155-72.
3. Nurden AT. Glanzmann thrombasthenia. Orphanet J Rare Dis 2006, 1:10.
4. Coller BS, Shattil SJ. The GPIIb/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend. Blood 2008, 112:3011-25.
5. Nurden P, Nurden AT. Congenital disorders associated with platelet dysfunctions. Thromb Haemost 2008, 99:253-63.
6. Simon D, Kunicki T, Nugent D. Platelet function defects. Haemophilia 2008, 14:1240-9.
7. Rosenberg N, Hauschner H, Peretz H, Mor-Cohen R, Landau M, Shenkman B, Kenet G, Coller BS, Awidi AA, Seligsohn U. A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. J Thromb Haemost 2005, 3:2764-72.
8. Trasi SA, Pathare AV, Shetty SD, Ghosh K, Salvi V, Mohanty D. The spectrum of bleeding disorders in women with menorrhagia: a report from Western India. Ann Hematol 2005, 84:339-42.
9. Kannan M, Ahmed RP, Jain P, Kumar R, Choudhry VP, Saxena R. Type I Glanzmann thrombasthenia: most common subtypes in North Indians. Am J Hematol 2003, 74:139-41.
10. Kannan M, Ahmad F, Kumar R, Choudhry VP, Saxena R. Use of CSGE, TspRI- RFLP and Western Blot in Carrier Detection in an Indian Family with Type I Glanzmann Thrombasthenia. Blood 2006, 108:3975a.
11. Kannan M, Ahmad F, Yadav BK, Anand M, Jain P, Kumar R, Saxena R. Glanzmann's thrombasthenia in North Indians: sub classification and carrier detection by flow cytometry. Platelets 2009, 20:12-15.
12. Kannan M, Ahmad F, Yadav BK, Kumar P, Jain P, Kumar R, Saxena R. Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation. Am J Clin Pathol 2008, 130:93-8.
13. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 15:7-12.
14. Basani RB, French DL, Vilaire G, Brown DL, Chen F, Coller BS, Derrick JM, Gartner TK, Bennett JS, Poncz M. A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. Blood 2000, 95:180-8.
15. French DL, Coller BS. Hematologically important mutations: Glanzmann thrombasthenia. Blood Cells Mol Dis 1997, 23:39-51.
16. Peyruchaud O, Nurden AT, Milet S, Macchi L, Pannochia A, Bray PF, Kieffer N, Bourre F. R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. Blood 1998, 92:4178-87.
17. D'Andrea G, Colaizzo D, Vecchione G, Grandone E, Di Minno G, Margaglione M. Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost 2002, 87:1034-42.
18. Bray PF, Rosa JP, Lingappa VR, Kan YW, McEver RP, Shuman MA. Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa. Proc Natl Acad Sci USA 1986, 83:1480-4.
19. Nelson EJ, Nair SC, Peretz H, Coller BS, Seligsohn U, Chandy M, Srivastava A. Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. J Thromb Haemost 2006, 4:1730-7.
20. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 1998, 95:1681-5.