A dominant-negative GFI1B mutation in the gray platelet syndrome.
نویسندگان
چکیده
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.
منابع مشابه
GFI1B mutation causes autosomal dominant gray platelet syndrome.
1. Kahr WH, Hinckley J, Li L et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011: 43 (8): 738–740. 2. Albers CA, Cvejic A, Favier R et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011: 43 (8): 735–737. 3. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T et al. NBEAL2 is mutated in gray platelet syndro...
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ورودعنوان ژورنال:
- The New England journal of medicine
دوره 373 8 شماره
صفحات -
تاریخ انتشار 2014