MYH9 related disease: A novel missense Ala95Asp mutation of the MYH9 gene

Daniela De Rocco, Paula G. Heller, Giorgia Girotto, Annalisa Pastore, Ana C. Glembotsky, Rosana F. Marta, Valeria Bozzi, Alessandro Pecci, Felisa C. Molinas, Anna Savoia

Research output: Contribution to journalArticlepeer-review


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. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.

Original languageEnglish
Pages (from-to)598-602
Number of pages5
Issue number8
Publication statusPublished - 2009


  • Macrothrombocytopenia
  • Mutational screening
  • MYH9 gene
  • MYH9-related disease
  • Neutrophil aggregate

ASJC Scopus subject areas

  • Hematology


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