title: Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.
abstract: May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Döhle-like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non-muscle myosin IIA (NMMHC-A). We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients showed an altered localization of NMMHC-A in granulocytes and platelets, suggesting that Döhle-like bodies are due to the aggregation of NMMHC-A in the cytoplasm. Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9-related disorders.
authors.affiliation: Department of Internal Medicine, IRCCS San Matteo, University of Pavia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pecci
authors.forename: Patrizia
authors.initials: P
authors.lastname: Noris
authors.forename: Rosangela
authors.initials: R
authors.lastname: Invernizzi
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.forename: Gian Marco
authors.initials: GM
authors.lastname: Ghiggeri
authors.forename: Saverio
authors.initials: S
authors.lastname: Sartore
authors.forename: Simone
authors.initials: S
authors.lastname: Gangarossa
authors.forename: Nicola
authors.initials: N
authors.lastname: Bizzaro
authors.forename: Carlo L
authors.initials: CL
authors.lastname: Balduini
mesh_terms: D001792:Blood Platelets / Q000737:chemistry*; D016022:Case-Control Studies; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007962:Leukocytes / Q000737:chemistry*; D020409:Molecular Motor Proteins; D009154:Mutation; D018995:Myosin Heavy Chains / Q000032:analysis* / Q000235:genetics; D024507:Nonmuscle Myosin Type IIA / Q000032:analysis*; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D024507:Nonmuscle Myosin Type IIA; D018995:Myosin Heavy Chains