Society of Diabetic Nephropathy Prevention Journal of Nephropathology 2251-8363 12 1 2023 01 01 Renal transplantation in a patient with MHY9-related disease; a case report e15980 e15980 10.34172/jnp.2022.15980 EN Sepideh Zununi Vahed https://orcid.org/0000-0003-0179-4562 Bahram Niknafs https://orcid.org/0000-0002-8476-0482 Hamid Noshad Ramin Tolouian Mohammadali Mohajel Shoja Audrey Tolouian Mohammadreza Ardalan https://orcid.org/0000-0002-6851-5460 Journal Article 10.34172/jnp.2022.15980 2019 12 20 2020 03 14 MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient.