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

Shinji Kunishima, Tadashi Matsushita, Motoaki Shiratsuchi, Takuya Ikuta, Junji Nishimura, Motohiro Hamaguchi, Tomoki Naoe, Hidehiko Saito

研究成果: ジャーナルへの寄稿記事

9 引用 (Scopus)

抄録

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.

元の言語英語
ページ(範囲)1-5
ページ数5
ジャーナルEuropean Journal of Haematology
74
発行部数1
DOI
出版物ステータス出版済み - 1 1 2005

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Myosin Heavy Chains
Deafness
Fluorescent Antibody Technique
Neutrophils
Inclusion Bodies
Granulocytes
Differential Diagnosis
Staining and Labeling
Amino Acids
Mutation
Genes
MYH9-Related Disorders

All Science Journal Classification (ASJC) codes

  • Hematology

これを引用

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. / Kunishima, Shinji; Matsushita, Tadashi; Shiratsuchi, Motoaki; Ikuta, Takuya; Nishimura, Junji; Hamaguchi, Motohiro; Naoe, Tomoki; Saito, Hidehiko.

:: European Journal of Haematology, 巻 74, 番号 1, 01.01.2005, p. 1-5.

研究成果: ジャーナルへの寄稿記事

Kunishima, Shinji ; Matsushita, Tadashi ; Shiratsuchi, Motoaki ; Ikuta, Takuya ; Nishimura, Junji ; Hamaguchi, Motohiro ; Naoe, Tomoki ; Saito, Hidehiko. / 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. :: European Journal of Haematology. 2005 ; 巻 74, 番号 1. pp. 1-5.
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abstract = "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-Gr{\"u}nwald-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.",
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AU - Kunishima, Shinji

AU - Matsushita, Tadashi

AU - Shiratsuchi, Motoaki

AU - Ikuta, Takuya

AU - Nishimura, Junji

AU - Hamaguchi, Motohiro

AU - Naoe, Tomoki

AU - Saito, Hidehiko

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