title: Inherited macrothrombocytopenias on the rise.
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).
authors.affiliation: UNIVERSITY OF TORONTO.
authors.forename: Carolina
authors.identifier: http://orcid.org/0000-0003-3545-1680
authors.initials: C
authors.lastname: Landolt-Marticorena
authors.affiliation: UNIVERSITY OF TORONTO.
authors.forename: Walter H A
authors.identifier: http://orcid.org/0000-0002-2832-7158
authors.initials: WH
authors.lastname: Kahr
mesh_terms: D001792:Blood Platelets / Q000473:pathology*; D054751:Cyclic AMP-Dependent Protein Kinase Catalytic Subunits / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008533:Megakaryocytes / Q000473:pathology*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D054751:Cyclic AMP-Dependent Protein Kinase Catalytic Subunits; C517763:PRKACG protein, human