Haematologica
HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS
QUICK SEARCH:   [advanced]


     

Haematologica, Vol 92, Issue 5, 698-701 doi:10.3324/haematol.10847
Copyright © 2007 by Ferrata Storti Foundation
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Losonczy, G.
Right arrow Articles by Muszbek, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Losonczy, G.
Right arrow Articles by Muszbek, L.

Platelets

Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia

Gergely Losonczy, Nurit Rosenberg, Zoltán Boda, György Vereb, János Kappelmayer, Hagit Hauschner, Zsuzsanna Bereczky, László Muszbek

From the Clinical Research Center, Thrombosis and Hemostasis Research Group of the Hungarian Academy of Sciences (GL, ZBe, LM) and 2nd Department of Medicine, Thrombosis and Hemostasis Division (ZBo) and Department of Biophysics and Cell Biology (GV) and Department of Clinical Biochemistry and Molecular Pathology (JK), University of Debrecen, Medical and Health Science Center, Debrecen, Hungary; Amalia Biron Research Institute of Thrombosis and Hemostasis, The Chaim Sheba Medical Center, Tel-Hashomer, Israel (NR, HH)

Correspondence: László Muszbek, MD, PhD, Clinical Research Center, University of Debrecen, Medical and Health Science Center, PO Box 40, Debrecen 4012, Hungary. E-mail: muszbek{at}med.unideb.hu

In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GP) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene (c.440C->G/p.Leu116Val, c.1772_1773insG/p.Asp560 GlyfsX16 and c.2438C->A/p.His782Asn). p.Leu116Val did not represent a causative mutation. The c.1772_1773insG mutation resulted in an early stop codon and nonsense mediated decay of mRNA. When expressed in transfected BHK cells, the truncated protein was unable to form complex with GPIIIa. The p.His782Asn mutation compromised transport of the pro-GPIIb/IIIa complex from the endoplasmic reticulum to the Golgi, hindering its maturation and surface expression.

Key words: fibrinogen receptor, Glanzmann thrombasthenia, glycoprotein IIb mutations.






HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS
Copyright © 2007 by the Ferrata Storti Foundation.