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Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their childhood. More clinical and genetic data from these patients are needed to characterize their genotype\u2013phenotype relationships and elucidate the role of nucleoporins in SRNS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Four patients of SRNS carrying biallelic variants in the <jats:italic>NUP93<\/jats:italic>, <jats:italic>NUP107<\/jats:italic> and <jats:italic>NUP160<\/jats:italic> genes were presented. The clinical and molecular genetic characteristics of these patients were summarized, and relevant literature was reviewed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>All four patients in this study were female and initially presented with SRNS. The median age at the onset of the disease was 5.08 years, ranging from 1 to 10.5 years. Among the four patients, three progressed to ESKD at a median age of 7 years, ranging from 1.5 to 10.5 years, while one patient reached stage 3 chronic kidney disease (CKD3). Kidney biopsies revealed focal segmental glomerulosclerosis in three patients. Biallelic variants were detected in <jats:italic>NUP93<\/jats:italic> in one patient, <jats:italic>NUP107<\/jats:italic> in two patients, as well as <jats:italic>NUP160<\/jats:italic> in one patient respectively. Among these variants, five yielded single amino acid substitutions, one led to nonsense mutation causing premature termination of NUP107 translation, one caused a single nucleotide deletion resulting in frameshift and truncation of NUP107. Furthermore, one splicing donor mutation was observed in <jats:italic>NUP160<\/jats:italic>. None of these variants had been reported previously.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This report indicates that biallelic variants in <jats:italic>NUP93<\/jats:italic>, <jats:italic>NUP107<\/jats:italic> and <jats:italic>NUP160<\/jats:italic> can cause severe early-onset SRNS, which rapidly progresses to ESKD. Moreover, these findings expand the spectrum of phenotypes and genotypes and highlight the importance of next-generation sequencing in elucidating the molecular basis of SRNS and allowing rational treatment for affected individuals.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13052-024-01656-3","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T16:02:32Z","timestamp":1713801752000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children"],"prefix":"10.1186","volume":"50","author":[{"given":"Yanxinli","family":"Han","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyu","family":"Sha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuowei","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanqi","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengjie","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liru","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,22]]},"reference":[{"issue":"8","key":"1656_CR1","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1007\/s00467-020-04519-1","volume":"35","author":"A Trautmann","year":"2020","unstructured":"Trautmann A, Vivarelli M, Samuel S, et al. 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