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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.

SUBMITTER: Ferreira CR

PROVIDER: S-EPMC5346474 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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

Ferreira Carlos R CR Chen Dong D Abraham Shirley M SM Adams David R DR Simon Karen L KL Malicdan May C MC Markello Thomas C TC Gunay-Aygun Meral M Gahl William A WA

Molecular genetics and metabolism 20161218 3

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 ...[more]

PMID: 28041820

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