{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T17:52:23Z","timestamp":1788285143459,"version":"build-2803163510"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>Microscopic hematuria is a common feature of patients with Alport syndrome, a familial nephropathy due to mutations in &lt;i&gt;COL4A3, COL4A4&lt;\/i&gt; or &lt;i&gt;COL4A5.&lt;\/i&gt; These genes encode for \u03b13, \u03b14, and \u03b15 type IV collagen polypeptide chains (collagen IV \u03b1345), crucial for the structural component of the glomerular basement membrane. Even patients with mild phenotype, namely isolated microhematuria (X-linked females with thin basement membrane on electron microscopy or heterozygous carriers of &lt;i&gt;COL4A3&lt;\/i&gt; or &lt;i&gt;COL4A4&lt;\/i&gt; mutations), can potentially progress to proteinuria and to end-stage renal disease.\u00a0Recent pedigree analyses provided evidence for digenic inheritance of Alport syndrome by concomitant mutations\u00a0in\u00a0&lt;i&gt;COL4A3&lt;\/i&gt;\/&lt;i&gt;COL4A4&lt;\/i&gt; or &lt;i&gt;COL4A4&lt;\/i&gt;\/&lt;i&gt;COL4A5&lt;\/i&gt;. We describe a Caucasian family with concomitant &lt;i&gt;COL4A3&lt;\/i&gt; and &lt;i&gt;COL4A5&lt;\/i&gt; mutations, consisting of a novel c.4484A&amp;#x3e;G &lt;i&gt;COL4A3&lt;\/i&gt; (p.Gln1495Arg) mutation and a previously reported c.1871G&amp;#x3e;A &lt;i&gt;COL4A5&lt;\/i&gt; (p.Gly624Asp) mutation. Our segregation analysis raises the possibility that Alport syndrome resembles also digenic inheritance by &lt;i&gt;COL4A3&lt;\/i&gt;\/&lt;i&gt;COL4A5&lt;\/i&gt;.<\/jats:p>","DOI":"10.1159\/000495764","type":"journal-article","created":{"date-parts":[[2019,1,18]],"date-time":"2019-01-18T22:01:19Z","timestamp":1547848879000},"page":"213-218","source":"Crossref","is-referenced-by-count":5,"title":["Possible Digenic Disease in a Caucasian Family with &lt;b&gt;&lt;i&gt;COL4A3&lt;\/i&gt;&lt;\/b&gt; and &lt;b&gt;&lt;i&gt;COL4A5&lt;\/i&gt;&lt;\/b&gt; Mutations"],"prefix":"10.1159","volume":"141","author":[{"given":"Mira","family":"Choi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoland-Marie","family":"Anistan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai-Uwe","family":"Eckardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maik","family":"Gollasch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Nickel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,1,18]]},"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/495764","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/495764","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:17:25Z","timestamp":1745428645000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000495764"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,3,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000495764","archive":["Portico"],"relation":{},"ISSN":["1660-8151","2235-3186"],"issn-type":[{"value":"1660-8151","type":"print"},{"value":"2235-3186","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}