Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.
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.
Pecci
Alessandro
A
Department of Internal Medicine, IRCCS San Matteo, University of Pavia, Italy.
Noris
Patrizia
P
Invernizzi
Rosangela
R
Savoia
Anna
A
Seri
Marco
M
Ghiggeri
Gian Marco
GM
Sartore
Saverio
S
Gangarossa
Simone
S
Bizzaro
Nicola
N
Balduini
Carlo L
CL
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
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D024507:Nonmuscle Myosin Type IIA; D018995:Myosin Heavy Chains