title: Update on the inherited platelet disorders.
abstract: OBJECTIVE
  The inherited platelet disorders have witnessed a surge in our understanding of molecular mechanisms of disease in the past few years due in large to part to the introduction of next-generation sequencing for discovery of novel genes. The purpose of this review is to update the reader on the novel discoveries with regard to the inherited platelet disorders, with a particular focus on describing the novel disorders described most recently.
  
  
  RESULTS
  The description of novel mechanisms of disease including mutations in PRKACG, in a family with severe macrothrombocytopenia, RUNX1 and FLI1 mutations in patients with inherited mild platelet function disorders and CalDAG-GEFI resulting in a severe platelet bleeding phenotype show that there is still much to be learned from studying families and molecular sequencing of patients with well phenotyped platelet disorders.
  
  
  CONCLUSIONS
  The implications for clinical practice of the continually growing list of genes described in small numbers of families makes whole exome/genome tempting as an option for evaluation of patients, but use outside of the research setting still needs to be done with extreme caution as interpretation of variants is likely to require additional studies.
authors.affiliation: The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Michele P
authors.initials: MP
authors.lastname: Lambert
mesh_terms: D001791:Blood Platelet Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D001798:Blood Proteins / Q000235:genetics; D014644:Genetic Variation; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D010641:Phenotype; D015398:Signal Transduction / Q000502:physiology; D013926:Thrombopoietin / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D001798:Blood Proteins; D020662:Guanine Nucleotide Exchange Factors; D014157:Transcription Factors; D013926:Thrombopoietin; D018995:Myosin Heavy Chains