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Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
- Source :
- Haematologica, Vol 92, Iss 5 (2007)
- Publication Year :
- 2007
- Publisher :
- Ferrata Storti Foundation, 2007.
-
Abstract
- 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.
- Subjects :
- Diseases of the blood and blood-forming organs
RC633-647.5
Subjects
Details
- Language :
- English
- ISSN :
- 03906078 and 15928721
- Volume :
- 92
- Issue :
- 5
- Database :
- Directory of Open Access Journals
- Journal :
- Haematologica
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.4fa36475753c4e468af1f231ab4afb29
- Document Type :
- article
- Full Text :
- https://doi.org/10.3324/haematol.10847