A case of MYH9 disorders caused by a novel mutation (p.K74E).
A case of MYH9 disorders caused by a novel mutation (p.K74E).
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一例由新突变 (p.K74E) 引起的 MYH9 疾病。
DOI：
10.1007/s00277-015-2506-9
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发表时间：
2016
期刊：
影响因子：
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通讯作者：
Kunishima S.
中科院分区：
文献类型：
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作者：
Kanematsu T;Suzuki N;Yoshida T;Kishimoto M;Aoki T;Ogawa M;Kagami Y;Kiyoi H;Matsushita T;Kunishima S.
尊敬的编辑，MYH 9疾病是一种罕见的遗传性常染色体显性遗传性疾病，其特征为粒细胞中的巨血小板减少症和Döhle小体样胞质包涵体[1-3]。虽然大多数MYH 9疾病是由错义突变引起的，但氨基酸取代的位置或类型的差异可能导致血细胞表型或Alport表现（肾炎，感觉性耳聋和白内障）的差异[4]。非肌肉肌球蛋白重链-IIA（NMMHC-IIA）头部结构域的突变导致MYH 9疾病，伴有高频率的Alport表现[4，5]。
Dear Editor, MYH9 disorders are rare hereditary autosomal dominant disorders characterized by macrothrombocytopenia and Döhle body-like cytoplasmic inclusion bodies in granulocytes [1–3]. Though most MYH9 disorders are caused by missense mutations, differences in the location or the type of amino acid substitution can result in differences in phenotypes of blood cells or Alport manifestations (nephritis, sensory deafness, and cataract)[4]. Mutations in the head domain of nonmuscle myosin heavy chain-IIA (NMMHC-IIA) cause MYH9 disorders with a high frequency of Alport manifestations [4, 5].