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非肌性肌球蛋白重链9基因突变相关疾病

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摘要 非肌性肌球蛋白重链9基因是May-Hegglin异常、Fechtner综合征、Epstein综合征和 Sebastian综合征等此类以巨大血小板和血小板减少为共同特征的常染色体显性遗传病的致病基因。此类疾病临床上易误诊为特发性血小板减少性紫癜,因误诊而采取的错误治疗带来的副作用远远大于疾病本身所带来的危害。
作者 易彦 张广森
机构地区 中南大学湘雅二医院血液科
出处 《国外医学（输血及血液学分册）》 2005年第4期321-323,共3页 Foreign Medical Sciences(Section of Blood Transfusion and Heanatology)
关键词 非肌性肌球蛋白重链9 基因突变 染色体 显性遗传病 血小板
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献18

  • 1徐敏,凌柱三,张广森,吴晓英,张淑安.May-Hegglin异常二例[J].中华血液学杂志,2001,22(3):152-153. 被引量：23
  • 2Noris P, Spedini P, Belletti S, et al. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly):clinical and laboratory findings. Am J Med, 1998, 104 (4): 355-360.
  • 3Everlien M, Knoch K, Farah I, et al. Coronary bypass surgery in May-Hegglin anomaly. Dtsch Med Wochenschr, 2001, 126 (3):47-49.
  • 4Bizzaro N. May-Hegglin anomaly and uncomplicated vaginal delivery: a report of 41 cases. Am J Obstet Gynecol, 1999, 181(1): 226-227.
  • 5Burns ER. Platelet studies in the pathogenesis of thrombocytopenia in May-Hegglin anomaly. Am J Pediatr Hematol Oncol, 1991, 13(4): 431-436.
  • 6Heynen M J, Blockman D, Verwilghen RL, et al. Congenital macrothrombocytopenia, leukocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on latelets and megakaryocytes. Br J Haematol, 1988, 70(4): 441-448.
  • 7Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain ⅡA mutations define a spectrum of autosomal dominant macrothron bocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet, 2001, 69(5):1033-1045.
  • 8Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Nat Genet, 2000, 26(1): 103-105.
  • 9Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta, 2000, 1496(1): 3-22.
  • 10Seri M, Pecci A, Di Bari F, et al. MYH9-related disease: MayHegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine, 2003, 82(3):203-215.

二级参考文献11

  • 1Kunishima S, Kojima T, Matsushita T, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/sebastian syndrome). Blood, 2001, 97:1147-1149.
  • 2Kelley MJ, Jawien W, Ortel TL, et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet, 2000, 26:106-108.
  • 3Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and fechtner and sebastian syndromes. The May-Heggllin/fechtner syndrome consortium. Nat Genet, 2000, 26:103-105.
  • 4Cawley JC, Hayhoe FG. The inclusions of the May-Hegglin anomaly and Dohle bodies of infection: an ultrastructural comparison. Br J Hematol, 1972, 22:491-496.
  • 5Pecci A, Noris P, Invernizzi R, et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.Br J Haematol, 2002,117:164-167.
  • 6Kunishima S, Matsushita T, Kojima T, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest, 2003, 83: 115-122.
  • 7Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta, 2000, 1496: 3-22.
  • 8A. Greinacher,H. K. Nieuwenhuis,J. G. White. Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions[J] 1990,Blut(5):282～288
  • 9A. Greinacher,C. Mueller-Eckhardt. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes[J] 1990,Blut(2):53～60
  • 10徐敏,凌柱三,张广森,吴晓英,张淑安.May-Hegglin异常二例[J].中华血液学杂志,2001,22(3):152-153. 被引量：23

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国外医学（输血及血液学分册）
2005年 第4期

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