Inherited macrothrombocytopenias on the rise.
Carolina Landolt-MarticorenaWalter H A KahrPublished in: Blood (2014)
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).