{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T20:12:55Z","timestamp":1792872775357,"version":"4.5.0"},"reference-count":38,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T00:00:00Z","timestamp":1757635200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>High-throughput sequencing methods revealed disease-causing and susceptibility genes underlying glomerulonephritis (GN). Genetic disorders mimicking GN may be diagnosed in this way. The aim of this study was to perform whole-exome sequencing (WES) in a cohort of sporadic pediatric patients diagnosed with primary or secondary GN.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Thirty-one patients with GN and 50 nephrologically and immunologically healthy pediatric patients (control group - CG) were genetically analyzed. Allele frequencies were compared with the GnomAD database. WES was performed in the laboratory 3billion in South Korea.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 10 patients with primary GN, two patients were positive on WES (20%). One had a likely pathogenic heterozygous variant in the <jats:italic>COL4A3<\/jats:italic> gene associated with Alport syndrome, and one had a heterozygous novel variant of uncertain significance in the <jats:italic>CD46<\/jats:italic> gene associated with atypical hemolytic uremic syndrome (aHUS). In two of 14 patients with systemic lupus erythematosus (SLE) and GN, a heterozygous pathogenic variant (c.841_849 + 19del) in the <jats:italic>C2<\/jats:italic> gene was detected. We found no significant variants in seven patients with Henoch\u2013Sch\u00f6nlein purpura (HSP) and GN.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>WES helped us detect hereditary diseases that have a clinical presentation like GN, including Alport syndrome and possible aHUS. Finding susceptibility genes in GN helped us understand disease pathophysiology.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2025.1611340","type":"journal-article","created":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T04:16:13Z","timestamp":1757650573000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Whole-exome sequencing in pediatric patients with glomerulonephritis"],"prefix":"10.3389","volume":"16","author":[{"given":"Marina","family":"Peric","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Brankovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasa","family":"Stajic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jovana","family":"Putnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Paripovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Jankovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dejan","family":"Nikolic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Milanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Novakovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladislav","family":"Vukomanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,12]]},"reference":[{"key":"B3","doi-asserted-by":"publisher","first-page":"78","DOI":"10.3389\/fped.2015.00078","article-title":"The evidence-based approach to adult-onset idiopathic nephrotic syndrome","volume":"3","author":"Canetta","year":"2015","journal-title":"Front. 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