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Annals of Hematology

, Volume 98, Issue 3, pp 781–782 | Cite as

Genotype–phenotype correlation of a novel MYH9 mutation (p.G736L) in a patient with macrothrombocytopenia and end-stage renal disease

  • João Tadeu Damian Souto FilhoEmail author
  • Marcelo Montebello Lemos
  • João Carlos Borromeu Piraciaba
  • Ana Laura Oliveira Silveira
  • Arthur Pires Lacerda
  • Arthur Zopé Pires
  • Luiza Reis de Sales
  • Yasmim Passos Dias
Letter to the Editor
  • 140 Downloads

Dear Editor,

Myosin heavy chain 9–related disorders (MYH9-RD; MIM #160775) are rare autosomal dominant inherited disorders of the MYH9 gene. The MYH9 gene encodes the non-muscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein related to cytokinesis, phagocytosis, cell motility, and cell form maintenance. Megakaryocytes and platelets express this non-muscular myosin variation, which accounts for the presence of large platelets and thrombocytopenia associated with mutations in this gene [1]. The term MYH9-RD encompasses four syndromes that were previously described as distinct macrothrombocytopenic disorders, namely May–Hegglin anomaly (MIM #155100), Sebastian (MIM #605249), Fechtner (MIM #153640), and Epstein syndromes (MIM #153650) according to additional clinical features, which included Döhle-like body inclusions in leukocytes, glomerular nephropathy, presenile cataracts, and sensorineural hearing loss [2]. The severity of clinical manifestations observed in...

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval and informed consent

All procedures followed were in accordance with the ethical standards of the institutional committee on human experimentation and with the Helsinki Declaration. Informed consent was obtained from the patient.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • João Tadeu Damian Souto Filho
    • 1
    • 2
    Email author
  • Marcelo Montebello Lemos
    • 1
  • João Carlos Borromeu Piraciaba
    • 1
  • Ana Laura Oliveira Silveira
    • 1
  • Arthur Pires Lacerda
    • 1
  • Arthur Zopé Pires
    • 1
  • Luiza Reis de Sales
    • 1
  • Yasmim Passos Dias
    • 1
  1. 1.Faculdade de Medicina de CamposCampos dos GoytacazesBrazil
  2. 2.Instituto Federal de Educação, Ciência e Tecnologia FluminenseCampos dos GoytacazesBrazil

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