More than 45 mutations are identified in MYH9 to date and some of them are linked to a large number of autosomal-dominant disorders including May-Hegglin anomaly, Sebastian platelet syndrome, Fetchner syndrome, Bernard-Soulier syndrome, Alport syndrome, and Epstein syndrome. The gene discussed is MYH9; the disease is macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss.