Variant type Glanzmann thrombasthenia caused by homozygous p.724R > X mutation in β3 integrin

Zsuzsa Bagoly, Ferenc Fazakas, Anikó Marosi, Olga Török, Zsuzsanna Bereczky, Gizella Haramura, Judit Tóth, János Kappelmayer, László Muszbek

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Abstract

This is the first report of variant type GT caused by homozygous p.724R > X mutation of β3 integrin. The mutation results in truncated cytoplasmic domain, that renders the receptor unable to undergo conformational change required for fibrinogen binding. The receptor count on non-activated platelets was moderately decreased (approximately 50% of normal), and the activation-dependent recruitment of αIIbβ3 receptor complex to the platelet surface became deficient, underlining the role for the cytoplasmic tail of β3 integrin in this process.

Original languageEnglish
Pages (from-to)427-431
Number of pages5
JournalThrombosis research
Volume125
Issue number5
DOIs
Publication statusPublished - May 1 2010

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ASJC Scopus subject areas

  • Hematology

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