Inherited macrothrombocytopenias on the rise

Blood. 2014 Oct 16;124(16):2473-5. doi: 10.1182/blood-2014-08-592329.

Abstract

In this issue of Blood, Manchev et al describe a consanguineous family with severe macrothrombocytopenia and bleeding symptoms where exome sequencing revealed a homozygous missense mutation in the PRKACG gene (p.74Ile>Met) encoding the γ-catalytic subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA).

Publication types

  • Comment

MeSH terms

  • Blood Platelets / pathology*
  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits / genetics*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Megakaryocytes / pathology*
  • Thrombocytopenia / genetics*

Substances

  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
  • PRKACG protein, human