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

Carlos R. Ferreira, Dong Chen, Shirley M. Abraham, David R. Adams, Karen L. Simon, May C. Malicdan, Thomas C. Markello, Meral Gunay-Aygun, William A. Gahl

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)288-294
Number of pages7
JournalMolecular genetics and metabolism
Volume120
Issue number3
DOIs
StatePublished - Mar 1 2017

Keywords

  • Combined alpha-delta platelet storage pool deficiency
  • GFI1B
  • αδ-SPD

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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