Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Document Type
Article
Publication Date
3-1-2017
Abstract
Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. We demonstrate that this disease is associated with either a heterozygous mutation (de novo or familial) abrogating the binding of the zinc fingers with the promoter of its target genes, or by hypomorphic biallelic mutations in GFI1B leading to autosomal recessive inheritance.
Publisher
Academic Press
Publication Title
Molecular genetics and metabolism
ISSN
1096-7206
Volume
120
Issue
3
First Page
288
Last Page
294
Recommended Citation
Ferreira, Carlos R; Dong Chen; Shirley M Abraham; David R Adams; Karen L Simon; May C Malicdan; Thomas C Markello; Meral Gunay-Aygun; and William A Gahl.
"Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.."
Molecular genetics and metabolism
