RGD Reference Report - A dominant-negative GFI1B mutation in the gray platelet syndrome. - Rat Genome Database

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A dominant-negative GFI1B mutation in the gray platelet syndrome.

Authors: Monteferrario, D  Bolar, NA  Marneth, AE  Hebeda, KM  Bergevoet, SM  Veenstra, H  Laros-van Gorkom, BA  MacKenzie, MA  Khandanpour, C  Botezatu, L  Fransen, E  Van Camp, G  Duijnhouwer, AL  Salemink, S  Willemsen, B  Huls, G  Preijers, F  Van Heerde, W  Jansen, JH  Kempers, MJ  Loeys, BL  Van Laer, L  Van der Reijden, BA 
Citation: Monteferrario D, etal., N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10.
RGD ID: 11040508
Pubmed: (View Article at PubMed) PMID:24325358
DOI: Full-text: DOI:10.1056/NEJMoa1308130

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.

Annotation

Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Gfi1b  (growth factor independent 1B transcriptional repressor)

Genes (Mus musculus)
Gfi1b  (growth factor independent 1B)

Genes (Homo sapiens)
GFI1B  (growth factor independent 1B transcriptional repressor)


Additional Information