biostudies-literatureBierzynska AKidney Research UKBritish Heart FoundationMedical Research CouncilNational Institute for Health Research (NIHR)2643-2656https://www.ebi.ac.uk/biostudies/studies/S-EPMC9489583biostudies-literatureUnknown37(11)<h4>Background</h4>Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte model.<h4>Methods</h4>Three hundred thirty-seven paediatric SRNS patients from the National cohort of patients with Nephrotic Syndrome (NephroS) were whole exome and/or whole genome sequenced. Patients were screened for over 70 genes known to be associated with Nephrotic Syndrome (NS). D. melanogaster Nup93 knockdown was achieved by RNA interference using nephrocyte-restricted Pediatric nephrology (Berlin, Germany)Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.PMC9489583PDF_005_20171124MR/RO13942/1MR/R007748/1IN10/2015MR/R013942/1RG65966Williams MStark HMarsh SWelsh GIBierzynska AAfzal MKoziell ABHegde SSinha MDMcCarthy HJBioResource NMegy KNeal CMapeta RPenkett CColby EMiellet SDean PSaleem MAStirrups KBull KForrester NHartley PSBugarin Diz CfalseExploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.<h4>Background</h4>Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte model.<h4>Methods</h4>Three hundred thirty-seven paediatric SRNS patients from the National cohort of patients with Nephrotic Syndrome (NephroS) were whole exome and/or whole genome sequenced. Patients were screened for over 70 genes known to be associated with Nephrotic Syndrome (NS). D. melanogaster Nup93 knockdown was achieved by RNA interference using nephrocyte-restricted 2022-01-01T00:00:00Z2022 Nov2025-04-26T22:02:05.669Z2025-04-06T17:06:03.704ZS-EPMC94895833521179510.1007/s00467-022-05440-5