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Detection of unique neutrophil non‐muscle myosin heavy chain‐A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness
Author(s) -
Kunishima Shinji,
Matsushita Tadashi,
Shiratsuchi Motoaki,
Ikuta Takuya,
Nishimura Junji,
Hamaguchi Motohiro,
Naoe Tomoki,
Saito Hidehiko
Publication year - 2005
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2004.00328.x
Subject(s) - immunofluorescence , myosin , pathology , biology , microbiology and biotechnology , granulocyte , exon , frameshift mutation , gene , immunology , medicine , antibody , genetics
MYH9 disorders are autosomal‐dominant macrothrombocytopenias with leukocyte inclusions caused by mutations in the MYH9 gene, which encodes the non‐muscle myosin heavy chain‐A (NMMHCA). We report a patient with an MYH9 disorder who presented with macrothrombocytopenia without leukocyte inclusions and severe bilateral sensory deafness. Conventional May–Grünwald–Giemsa staining failed to detect granulocyte cytoplasmic inclusions, whereas immunofluorescence analysis clearly demonstrated abnormal neutrophil NMMHCA localization. Genetic analyses revealed a novel heterozygous 18 base deletion in MYH9 , leading to a six‐amino acid in‐frame deletion (N76_S81del) in NMMHCA. These results further support the usefulness of immunofluorescence analysis in differential diagnosis of MYH9 disorders.