Genotype–phenotype correlation of a novel MYH9 mutation (p.G736L) in a patient with macrothrombocytopenia and end-stage renal disease
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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 . 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 . The severity of clinical manifestations observed in...
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The authors declare that they have no conflict of interest.
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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.