{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(2)"],"submitter":["Nakatani R"],"pubmed_abstract":["MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, progressive kidney failure, and sensorineural hearing loss. We describe a patient with MYH9-RD and a normal platelet count. A 13-year-old boy with a normal platelet count presented with proteinuria and hematuria and underwent a kidney biopsy. Light microscopy showed mild mesangial matrix expansion. Electron microscopy showed thinning of the glomerular basement membrane and splitting of the lamina densa. A tentative diagnosis of Alport syndrome was made. Unexpectedly, genetic analysis revealed a de novo MYH9 gene variant (p.Gln1068_Leu1074dup). A peripheral blood smear examination showed giant platelets and leukocyte inclusion bodies, confirming a diagnosis of MYH9-RD. In summary, we described a patient wit"],"journal":["CEN case reports"],"pagination":["141-144"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11958883"],"repository":["biostudies-literature"],"pubmed_title":["MYH9-related disease with a normal platelet count."],"pmcid":["PMC11958883"],"pubmed_authors":["Miura K","Shirai Y","Kunishima S","Nakatani R","Taneda S","Horinouchi T","Nozu K","Honda K","Yamaguchi Y","Hattori M"],"additional_accession":[]},"is_claimable":false,"name":"MYH9-related disease with a normal platelet count.","description":"MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, progressive kidney failure, and sensorineural hearing loss. We describe a patient with MYH9-RD and a normal platelet count. A 13-year-old boy with a normal platelet count presented with proteinuria and hematuria and underwent a kidney biopsy. Light microscopy showed mild mesangial matrix expansion. Electron microscopy showed thinning of the glomerular basement membrane and splitting of the lamina densa. A tentative diagnosis of Alport syndrome was made. Unexpectedly, genetic analysis revealed a de novo MYH9 gene variant (p.Gln1068_Leu1074dup). A peripheral blood smear examination showed giant platelets and leukocyte inclusion bodies, confirming a diagnosis of MYH9-RD. In summary, we described a patient wit","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2025-07-11T03:04:15.155Z","creation":"2025-07-11T03:04:15.155Z"},"accession":"S-EPMC11958883","cross_references":{"pubmed":["39096414"],"doi":["10.1007/s13730-024-00922-x"]}}