242
Views
1
CrossRef citations to date
0
Altmetric
Original article

Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia

, , , , , , & show all
Pages 355-359 | Received 08 Mar 2019, Accepted 18 Apr 2019, Published online: 14 May 2019

References

  • Glanzmann E. Hereditare hamorrhagische thrombasthenia: ein beitrag zur pathologie der blut plattchen. J. Kinderkr 1918;88: 1–13.
  • Haghighi A, Borhany M, Ghazi A, Edwards, N, Tabaksert, A, Haghighi, A, Fatima, N, Shamsi, T.S. and Sayer, J.A. Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. Clin Genet 2016;89(2): 187–192. doi:10.1111/cge.12622
  • Vijapurkar M, Ghosh K, Shetty S, McLane MA, da Silva, AMM. and Butera D.A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia. Haematologica 2008;93(5): 797–798. doi:10.3324/haematol.12288
  • Schlegel N, Gayet O, Morel-Kopp MC, Wyler, B. The molecular genetic basis of Glanzmann’s thrombasthenia in a Gypsy population in France: identification of a new mutation on the alpha IIb gene. Blood 1995;86(3): 977–982.
  • Rosenberg N, Hauschner H, Mor-Cohen R, Landau, B. 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(12): 2764–2772. doi:10.1111/j.1538-7836.2005.01618.x
  • 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): 1–15.
  • Xiang Q, Ji SD, Zhang Z, Zhao, X, Cui, Y. M. Identification of ITGA2B and ITGB3 Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function. Biomed Res Int 2016;2016: 5675084. doi:10.1155/2016/5675084
  • Albanyan A, Al-Musa A, Alnounou R, Al Zahrani, R. Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. Int J Lab Hematol 2015;37(4): 503–508. doi:10.1111/ijlh.12320
  • Bellucci S, Caen J. Molecular basis of glanzmann's thrombasthenia and current strategies in treatment. Blood Reviews 2002; 16(3): 193–202. doi:10.1016/S0268-960X(02)00030-9
  • Tokgoz H, Ozkan DT, Caliskan U, Akar N. Novel mutations of integrin alphaIIb and beta3 genes in Turkish children with Glanzmann’s thrombasthenia. Platelets 2015;26(8): 779–782. doi:10.3109/09537104.2014.998994
  • Heidenreich R, Eisman R, Surrey S, Delgrosso, K. Organization of the gene for platelet glycoprotein IIb. Biochemistry 1990;29(5): 1232–1244. doi:10.1021/bi00457a020
  • Wilhide CC, JIn Y, Guo Q, Li L, Li SX, Rubin E, Bray PF. The human integrin beta3 gene is 63kb and contains a 5ʹ-UTR sequence regulating expression. Blood 1997;90(10): 3951–3961.
  • Nair S, Ghosh K, Shetty S, Mohanty D. Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. J Thromb Haemost 2005;3(3): 482–488. doi:10.1111/j.1538-7836.2005.01159.x
  • Zhou L, Jiang M, Shen H, You T. Clinical and molecular insights into Glanzmann’s thrombasthenia in China. Clin Genet 2018;94(2): 213–220. doi:10.1111/cge.13366
  • Richards S, Aziz N, Bale S, Bick, D. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17(5): 405–424. doi:10.1038/gim.2015.30
  • Estcourt LJ, Birchall J, Allard S, Bassey SJ, Hersey P, Kerr JP, Mumford AD, Stanworth SJ, Tinegate H. Guidelines for the use of platelet transfusions. Br J Haematol 2017;176: 365–394. doi:10.1111/bjh.14423
  • Poon MC, d’Oiron R. Alloimmunization in congenital deficiencies of platelet surface glycoproteins: focus on Glanzmann’s Thrombasthenia and Bernard-Soulier’s Syndrome. Semin Thromb Hemost 2018;44(6): 604–614. doi:10.1055/s-0038-1648233
  • Kazemi A, Abolghasemi H, Kazemzadeh S, Vahidi, R. Molecular characterization of Glanzmann’s thrombasthenia in Iran: identification of three novel mutations. Blood Coagul Fibrinolysis 2017;28(8): 681–686. doi:10.1097/MBC.0000000000000533
  • Miao LZ, Gan FY, Gong Y, Qu, J. Z, Wang, J. Y. Molecular analysis of gene mutations in eight patients with Glanzmann’s thrombasthenia. Zhonghua Yi Xue Za Zhi 2018;98(30): 2418–2423.
  • Recht M, Chitlur M, Lam D. Epistaxis as a Common Presenting Symptom of Glanzmann’s Thrombasthenia, a Rare Qualitative Platelet Disorder: illustrative Case Examples. Case Rep Emerg Med 2017;2017: 8796425.
  • Ambo H, Kamata T, Handa M, Taki M, Kuwajima M, Kawai Y. Three Novel Integrin b3 Subunit Missense Mutations (H280P, C560F, and G579S) in Thrombasthenia, Including One (H280P) Prevalent in Japanese Patients. Biochem Biophys Res Commun 1998;251: 763–768. doi:10.1006/bbrc.1998.9526
  • Andre P, Prasad KS, Denis CV, He M, Papalia JM, Hynes Ro, Phillips DR, Wagner DD. CD40L stabilizes arterial thrombi by a beta3 integrin–dependent mechanism. Nat Med 2002;8(3): 247–252. doi:10.1038/nm0302-247
  • Ni H, Denis CV, Subbarao S, Degen, J.L, Sato, T.N, Hynes, R.O, Wagner, D.D. Persistence of platelet thrombus formation in arterioles of mice lacking both von Willebrand factor and fibrinogen. J Clin Invest 2000;106(3): 385–392. doi:10.1172/JCI9896
  • Mor-Cohen R, Rosenberg N, Peretz H, Landau, M, Coller, B.S, Awidi, A, Seligsohn, U. Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian familied with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3. Thromb Haemost 2007;98(6): 1257–1265. doi:10.1160/TH07-04-0248
  • Wang R, Shattil SJ, Ambruso DR, Newman, P.J. Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. J Clin Invest 1997;100(9): 2393–2403. doi:10.1172/JCI119638
  • D’Andrea G, Margaglione M. Glanzmann’s thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism. Haematologica 2003;88: 1378–1382.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.