{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T05:49:36Z","timestamp":1766382576976,"version":"3.48.0"},"reference-count":36,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>To investigate the genetic architecture of autosomal dominant steroid\u2010resistant nephrotic syndrome (AD\u2010SRNS) in Algerian families and to evaluate the diagnostic yield of targeted next\u2010generation sequencing, with a particular focus on podocyte\u2010related genes and the identification of potential novel variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We studied 89 affected individuals from 32 unrelated Algerian families with suspected AD\u2010SRNS. Genetic testing was performed using a custom panel of 52 podocyte\u2010related genes, followed by segregation analysis when available. Clinical, histological, and transplant\u2010related data were retrospectively reviewed. Variants were interpreted according to ACMG guidelines, and genotype\u2013phenotype correlations were analysed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic or likely pathogenic variants were identified in 21 families (65.6%). The most frequently mutated genes were INF2 (51%) and TRPC6 (43%), followed by ACTN4 and WT1. A novel likely pathogenic variant in a candidate gene (XYZ1) was identified in one family. Mutation\u2010positive families showed earlier disease onset, a higher prevalence of FSGS, and more frequent progression to ESRD before age 30. Extrarenal features occurred in 20% of patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study represents the first comprehensive genetic analysis of AD\u2010SRNS in North Africa, demonstrating a high diagnostic yield and expanding the AD\u2010SRNS spectrum through the identification of a novel gene candidate. These findings highlight the importance of integrating genomic testing into routine nephrology practice, particularly in underrepresented populations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nep.70152","type":"journal-article","created":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T01:40:00Z","timestamp":1764639600000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid\u2010Resistant Nephrotic Syndrome: Predominance of\n                    <scp>INF2<\/scp>\n                    and\n                    <scp>TRPC6<\/scp>\n                    and Identification of a Novel Gene"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4642-3709","authenticated-orcid":false,"given":"L.","family":"Azouaou","sequence":"first","affiliation":[{"name":"Department of Nephrology, Chief of Hemodialysis Unit CHU Hussein Dey  Algiers Algeria"},{"name":"Laboratory of Oxidative Stress, Kidney and Associated Complications Faculty of Medicine Algiers University of Health Sciences  Algiers Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12]]},"reference":[{"issue":"14","key":"e_1_2_11_2_1","first-page":"1321","article-title":"A Single\u2010Gene Cause in 29.5% of Cases of Steroid\u2010Resistant Nephrotic Syndrome","volume":"372","author":"Sadowski C. E.","year":"2015","journal-title":"New England Journal of Medicine"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.10.013"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.205"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.05260610"},{"issue":"9","key":"e_1_2_11_6_1","first-page":"1367","article-title":"Targeted Next\u2010Generation Sequencing in Steroid\u2010Resistant Nephrotic Syndrome: Mutations in Multiple Glomerular Genes May Influence Disease Severity","volume":"26","author":"Bullich G.","year":"2018","journal-title":"European Journal of Human Genetics"},{"issue":"2","key":"e_1_2_11_7_1","first-page":"424","article-title":"Mutations in ACTN4 can cause familial focal segmental glomerulosclerosis","volume":"73","author":"Barua M.","year":"2003","journal-title":"American Journal of Human Genetics"},{"issue":"9","key":"e_1_2_11_8_1","first-page":"2307","article-title":"Genetic Screening in Adolescents With Steroid\u2010Resistant Nephrotic Syndrome","volume":"28","author":"Lipska\u2010Zi\u0119tkiewicz B. 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