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: Contribution to journalArticle査読

9 被引用数 (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.

本文言語英語
ページ(範囲)1-5
ページ数5
ジャーナルEuropean Journal of Haematology
74
1
DOI
出版ステータス出版済み - 1 2005

All Science Journal Classification (ASJC) codes

  • Hematology

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