Title

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

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