{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:01:06Z","timestamp":1791277266858,"version":"4.1.0"},"reference-count":5,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2017,11,3]],"date-time":"2017-11-03T00:00:00Z","timestamp":1509667200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,11,3]],"date-time":"2017-11-03T00:00:00Z","timestamp":1509667200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> Glomerulopathy with fibronectin deposits (GFND; OMIM: 601894) is a very rare inherited kidney disease caused by pathogenic variants in the <i>FN1<\/i> gene. Only 9 exonic pathogenic variants in <i>FN1<\/i>, 9 at the heparin-binding site, and 1 at the integrin-binding site have been reported. No intronic variants in <i>FN1<\/i> have been detected. <b><i>Methods:<\/i><\/b> We found a pathogenic intronic variant in intron 36 (c.5888\u20132A&#x3e;G) located at the heparin-binding site. To determine whether this mutation influences splicing processes, we conducted RT-PCR analysis and an in vitro splicing assay using minigene construction. <b><i>Results:<\/i><\/b> RT-PCR using RNA extracted from leukocytes of the proband failed because of the low expression of <i>FN1<\/i> mRNA in leukocytes. We conducted in vitro functional splicing analysis using minigenes and found that c.5888\u20132A&#x3e;G caused a 12 bp deletion at exon 37 by the activation of a novel splicing acceptor site within exon 37. We were able to detect the same abnormal transcript in mRNA extracted from the patient\u2019s urinary sediment and confirmed the pathogenicity of c.5888\u20132A&#x3e;G by both RT-PCR using the patient sample and an in vitro splicing assay. <b><i>Conclusion:<\/i><\/b> Intronic variants can cause GFND. Minigene analysis is useful for determining the pathogenicity of the intronic variants and could be used for all inherited kidney diseases.<\/jats:p>","DOI":"10.1159\/000484209","type":"journal-article","created":{"date-parts":[[2017,11,3]],"date-time":"2017-11-03T22:01:35Z","timestamp":1509746495000},"page":"166-171","source":"Crossref","is-referenced-by-count":9,"title":["Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits"],"prefix":"10.1159","volume":"138","author":[{"given":"Yurika","family":"Tsuji","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Sofue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Hara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keita","family":"Nakanishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiko","family":"Yamamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shogo","family":"Minamikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimi","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kaito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junya","family":"Fujimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Horinouchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Morisada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiro","family":"Morioka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Taniguchi-Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,11,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1995.280"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707730105"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3368-7"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0697-7"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.03.006"}],"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/484209","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/484209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:09:05Z","timestamp":1745428145000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000484209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,3]]},"references-count":5,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,2,9]]},"published-print":{"date-parts":[[2018,2,15]]}},"URL":"https:\/\/doi.org\/10.1159\/000484209","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5567989","asserted-by":"subject"}]},"ISSN":["1660-8151","2235-3186"],"issn-type":[{"value":"1660-8151","type":"print"},{"value":"2235-3186","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,3]]}}}