MYH9 related disease: Four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Alessandro Pecci, Emanuele Panza, Daniela De Rocco, Nuria Pujol-Moix, Giorgia Girotto, Luigi Podda, Carmelo Paparo, Valeria Bozzi, Annalisa Pastore, Carlo L. Balduini, Marco Seri, Anna Savoia

Research output: Contribution to journalArticle


MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. All patients present congenital macrothrombocytopenia and inclusion bodies in neutrophils. Some of them can also develop sensorineural deafness, presenile cataract, and/or progressive nephropathy leading to end-stage renal failure. We report four families, each with a novel mutation: two missense mutations, in exons 31 and 32, and two out of frame deletions in exon 40. They were associated with no bleeding diathesis, normal, or only slightly reduced platelet count and no extra-hematological manifestations, confirming that alterations of the tail domain cause a mild form of MYH9-RD with no clinically relevant defects.

Original languageEnglish
Pages (from-to)291-297
Number of pages7
JournalEuropean Journal of Haematology
Issue number4
Publication statusPublished - Apr 2010



  • Coiled-coil structure
  • Frame-shift mutation
  • Missense mutation
  • Mutational screening
  • MYH9 gene
  • MYH9-related disease

ASJC Scopus subject areas

  • Hematology

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