Our study identified a paternal heterozygous missense variant in MYH9 (NM_002473.6:c.3323A>C), which was previously considered as a reason for the phenotype of macrothrombocytopenia and granulocyte inclusions, with or without nephritis or sensorineural hearing loss (OMIM #155100). The gene discussed is MYH9; the disease is Macrothrombocytopenia.