Annals of Hematology

, Volume 91, Issue 7, pp 1147–1148 | Cite as

A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts

  • Jihong HaoEmail author
  • Shinji KunishimaEmail author
  • Xin Guo
  • Rui Hu
  • Weiguo Gao
Letter to the Editor

Dear Editor,

MYH9 disorders are autosomal dominant disorders, characterized by macrothrombocytopenia and granulocyte inclusion bodies, and include May–Hegglin anomaly (MHA), Sebastian syndrome (SBS), Fechtner syndrome (FTNS), and Epstein syndrome (EPTS). These disorders are caused by mutations in MYH9, which codes for the nonmuscle myosin heavy chain IIA (NMMHC-IIA) [1, 2, 3, 4, 5, 6]. It has been reported that patients with MYH9 disorder with mutations in the rod domain (such as E1841K mutation) have mild thrombocytopenia and a lower risk of developing hearing or kidney impairment as MHA or SBS, whereas mutations in the head domain are frequently additionally associated with non-hematological complications as FTNS and EPTS [7]. Here, we describe a large Chinese family with E1841K mutation in MYH9 disorders, clinically diagnosed as FTNS, in which the proband had serious kidney and progressive sensorineural hearing impairment and cataracts.

A 58-year-old Chinese male was admitted to our...


Cataract Hearing Impairment Focal Segmental Glomerulosclerosis E1841K Mutation Nonmuscle Myosin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Kelley MJ, Jawien W, Ortel TL et al (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26(1):106–108PubMedCrossRefGoogle Scholar
  2. 2.
    The May–Hegglin/Fechtner Syndrome Consortium (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 26(1):103–105CrossRefGoogle Scholar
  3. 3.
    Kunishima S, Kojima T, Matsushita T et al (2001) Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 97(15):1147–1149PubMedCrossRefGoogle Scholar
  4. 4.
    Heath KE, Campos-Barros A, Toren A et al (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 69(10):1033–1045PubMedCrossRefGoogle Scholar
  5. 5.
    Dong F, Li S, Pujol-Moix N et al (2005) Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol 130(3):620–627PubMedCrossRefGoogle Scholar
  6. 6.
    Kunishima S, Matsushita T, Kojima T et al (2001) Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 46(10):722–729PubMedCrossRefGoogle Scholar
  7. 7.
    Pecci A, Panza E, Pujol-Moix N et al (2008) Position of nonmuscle myosin IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 29(3):409–417PubMedCrossRefGoogle Scholar
  8. 8.
    Kunishima S, Matsushita T, Kojima T et al (2003) Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 83(1):115–122PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  1. 1.Department of Clinical LaboratorySecond Hospital, Hebei Medical UniversityShijiazhuangChina
  2. 2.Department of Advanced Diagnosis, Clinical Research CenterNational Hospital Organization Nagoya Medical CenterNagoyaJapan
  3. 3.Department of Clinical LaboratoryHospital of Hebei Engineering UniversityHandanChina

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