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Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Ferreira CR,Chen D,Abraham SM,Adams DR,Simon KL,Malicdan MC,Markello TC,Gunay-Aygun M,Gahl WA

doi

10.1016/j.ymgme.2016.12.006

subject

Has Abstract

pub_date

2017-03-01 00:00:00

pages

288-294

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(16)30384-5

journal_volume

120

pub_type

杂志文章

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