{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:01:15Z","timestamp":1791133275034,"version":"4.1.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2004,12,30]],"date-time":"2004-12-30T00:00:00Z","timestamp":1104364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,12,30]],"date-time":"2004-12-30T00:00:00Z","timestamp":1104364800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Clin Pract"],"abstract":"<i>Background:<\/i> Mutations in the <i>NPHS2 <\/i>gene, encoding podocin, and in the<i> ACTN4 <\/i>gene, encoding \u03b1-actinin-4, have been identified in familial childhood-onset forms of focal and segmental glomerulosclerosis (FSGS). <i>NPHS2 <\/i>may be also responsible for some sporadic cases. The role of <i>NPHS2<\/i> and <i>ACTN4 <\/i>in the adult sporadic form of the disease is being clarifying. <i>Methods:<\/i> Thirty-three adult subjects affected by sporadic FSGS were studied at molecular level. At biopsy, 12 patients had nephrotic syndrome, 5 patients had isolated proteinuria and 16 patients showed proteinuria and hematuria. Glomerular filtration rate (GFR) was in the normal range in 19 subjects and 14 patients had a variable degree of renal failure. Multiplex families presenting with a clear familial inheritance for proteinuria or other congenital nephrotic syndrome were excluded. The whole coding region, all intron\/exon boundaries and flanking intronic regions of <i>NPHS2<\/i> gene and the exon 8, i.e. hot-spot mutations of the <i>ACTN4<\/i> gene, were analyzed in all patients by denaturing high-performance liquid chromatography (DHPLC) to search disease-causing defects. <i>Results:<\/i> The analysis identified four already described and two new polymorphisms, IVS3\u201321C>T and IVS3\u201346C>T, on the <i>NPHS2<\/i> gene. Moreover, the R229Q allele was identified in 3\/33 patients and in 7\/124 controls, accounting for an allelic frequency of 0.045 and 0.028, respectively. The new intronic polymorphism IVS7\u201354C>T was also found in the exon 8 of the <i>ACTN4<\/i> gene. <i>Conclusions:<\/i> In this study, we exhaustively analyzed the <i>NPHS2<\/i> and the exon 8 of the <i>ACTN4<\/i> genes in a series of sporadic \u2018adult-onset\u2019 FSGS patients. No causative mutations were found while the R229Q allele was identified in 3 patients confirming its possible role as a \u2018disease-associated <i>NPHS2<\/i> allele\u2019 although its pathogenetic involvement needs to be further clarified. Moreover, the description of new intronic polymorphisms in both genes is reported.<\/jats:p>","DOI":"10.1159\/000082864","type":"journal-article","created":{"date-parts":[[2004,12,30]],"date-time":"2004-12-30T10:00:23Z","timestamp":1104400823000},"page":"c31-c36","source":"Crossref","is-referenced-by-count":32,"title":["Molecular Analysis of <i>NPHS2<\/i> and <i>ACTN4<\/i> Genes in a Series of 33 Italian Patients Affected by Adult-Onset Nonfamilial Focal Segmental Glomerulosclerosis"],"prefix":"10.1159","volume":"99","author":[{"given":"Filippo","family":"Aucella","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"De Bonis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Gatta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia Anna","family":"Muscarella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mimmo","family":"Vigilante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"di Giorgio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"D\u2019Errico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leopoldo","family":"Zelante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmine","family":"Stallone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Bisceglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2004,12,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0272-6386%2800%2970258-7"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2Fki.1994.388"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000039569.34360.5E"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI200215094"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2F00041552-200107000-00004"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2FS1097-2765%2800%2980057-X"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2F74166"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2F73456"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1999.5828"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.ajkd.2003.12.034"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000060578.79050.E0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000113552.59155.72"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI200216242"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2003.00084.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000118135.00519.B0"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F11.4.379"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1523-1755.2004.00479.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.1130"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2FS0272-6386%2803%2900364-0"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI200212858"}],"container-title":["Nephron Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/82864","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/82864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:27:19Z","timestamp":1745465239000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000082864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,30]]},"references-count":20,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2005,2,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000082864","archive":["Portico"],"relation":{},"ISSN":["1660-2110"],"issn-type":[{"value":"1660-2110","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,30]]}}}