| Literature DB >> 24325358 |
Davide Monteferrario1, Nikhita A Bolar, Anna E Marneth, Konnie M Hebeda, Saskia M Bergevoet, Hans Veenstra, Britta A P Laros-van Gorkom, Marius A MacKenzie, Cyrus Khandanpour, Lacramiora Botezatu, Erik Fransen, Guy Van Camp, Anthonie L Duijnhouwer, Simone Salemink, Brigith Willemsen, Gerwin Huls, Frank Preijers, Waander Van Heerde, Joop H Jansen, Marlies J E Kempers, Bart L Loeys, Lut Van Laer, Bert A Van der Reijden.
Abstract
The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. Both gray platelets and megakaryocytes had abnormal marker expression. In addition, the megakaryocytes had dysplastic features, and they were abnormally distributed in the bone marrow. The GFI1B mutant protein inhibited nonmutant GFI1B transcriptional activity in a dominant-negative manner. Our studies show that GFI1B, in addition to being causally related to the gray platelet syndrome, is key to megakaryocyte and platelet development.Entities:
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Year: 2013 PMID： 24325358 DOI： 10.1056/NEJMoa1308130
Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245