{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T01:36:31Z","timestamp":1776648991315,"version":"3.51.2"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:00:00Z","timestamp":1756252800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    TNS2\u2010related Nephrotic Syndrome (TNS2\u2010NS) is a rare form of nephrotic syndrome inherited in an autosomal recessive manner, caused by pathogenic variants in the\n                    <jats:italic>TNS2<\/jats:italic>\n                    gene. Only five cases have been documented, all involving biallelic missense variants with symptoms appearing in early childhood. We describe a 34\u2010year\u2010old man with nephrotic syndrome who was found to have a homozygous stop\u2010gain mutation in\n                    <jats:italic>TNS2<\/jats:italic>\n                    via exome sequencing. This is the first reported human case with a truncating\n                    <jats:italic>TNS2<\/jats:italic>\n                    variant and adult\u2010onset disease, differing from earlier cases with early onset and missense mutations. While studies in mice show that Tns2 is vital for kidney health, similar human data are lacking. Our results indicate that null mutations in\n                    <jats:italic>TNS2<\/jats:italic>\n                    could also lead to nephrotic syndrome and may result in the disease manifesting later in life.\n                  <\/jats:p>","DOI":"10.1111\/cge.70053","type":"journal-article","created":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:09:02Z","timestamp":1756339742000},"page":"392-395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Adult\u2010Onset Nephrotic Syndrome due to a Homozygous\n                    <i>TNS2<\/i>\n                    Truncating Variant: Broadening the Mutational Spectrum"],"prefix":"10.1111","volume":"109","author":[{"given":"Ali","family":"Babazade","sequence":"first","affiliation":[{"name":"Gazi University, Faculty of Medicine Department of Medical Genetics  Ankara T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taha Enes","family":"Cetin","sequence":"additional","affiliation":[{"name":"Gazi University, Faculty of Medicine Department of Nephrology  Ankara T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozant","family":"Helvac\u0131","sequence":"additional","affiliation":[{"name":"Gazi University, Faculty of Medicine Department of Nephrology  Ankara T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozden","family":"Seckin","sequence":"additional","affiliation":[{"name":"Gazi University, Faculty of Medicine Department of Cardiology  Ankara T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulsum","family":"Kayhan","sequence":"additional","affiliation":[{"name":"Gazi University, Faculty of Medicine Department of Medical Genetics  Ankara 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