{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T04:22:58Z","timestamp":1788841378066,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201011\u2010LABX\u20100070_TRANSPLANTEX"],"award-info":[{"award-number":["ANR\u201011\u2010LABX\u20100070_TRANSPLANTEX"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PERSONALIS"],"award-info":[{"award-number":["PERSONALIS"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["Chimie pour la M\u00e9decine 2018"],"award-info":[{"award-number":["Chimie pour la M\u00e9decine 2018"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the <jats:italic>PODXL<\/jats:italic> gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrotic syndrome and kidney failure. Their histologic description, however, was superficial or absent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed exome sequencing on a three\u2010generation family affected by an atypical glomerular nephropathy and characterized the disease by light and electron microscopy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The disease was characterized by FSGS features and glomerular basement membrane duplication. Six family members displayed chronic proteinuria, ranging from mild manifestations without renal failure, to severe forms with end\u2010stage renal disease. Exome sequencing of affected twin sisters, their affected mother, healthy father, and healthy maternal uncle revealed a new nonsense variant cosegregating with the disease (c.1453C&gt;T, NM_001018111) in the <jats:italic>PODXL<\/jats:italic> gene, which is known to be expressed in the kidney and to cause nephropathy when mutated. The variant is predicted to lead to a premature stop codon (p.Q485*) that results in the loss of the intracytoplasmic tail of the protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first description of a peculiar association combining a <jats:italic>PODXL<\/jats:italic> stop\u2010gain variant and both FSGS and membranoproliferative glomerulonephritis features, described by light and electron microscopy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1658","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T14:00:11Z","timestamp":1617026411000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Atypical focal segmental glomerulosclerosis associated with a new <i>PODXL<\/i> nonsense variant"],"prefix":"10.1002","volume":"9","author":[{"given":"David","family":"Marx","sequence":"first","affiliation":[{"name":"Department of Nephrology and Transplantation F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"},{"name":"Laboratoire de Spectrom\u00e9trie de Masse BioOrganique CNRS, IPHC, UMR 7178, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS) Universit\u00e9 de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Caillard","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"},{"name":"Laboratoire d'ImmunoRhumatologie Mol\u00e9culaire, plateforme GENOMAX, INSERM UMR_S 1109, Facult\u00e9 de M\u00e9decine F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Institut th\u00e9matique interdisciplinaire (ITI) de M\u00e9decine de Pr\u00e9cision de Strasbourg, Transplantex NG, Universit\u00e9 de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Olagne","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Nouvel H\u00f4pital Civil, H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"},{"name":"Department of Pathology H\u00f4pital de Hautepierre H\u00f4pitaux Universitaires de Strasbourg Strasbourg 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