{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:09:15Z","timestamp":1792098555205,"version":"4.4.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>To screen for <jats:italic>CLCN2<\/jats:italic> mutations in apparently sporadic cases of aldosterone-producing adenomas (APAs).<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Description<\/jats:title>\n<jats:p>Recently, <jats:italic>CLCN2<\/jats:italic>, encoding for the voltage-gated chloride channel protein 2 (ClC-2), was identified to be mutated in familial hyperaldosteronism II (FH II). So far, somatic mutations in <jats:italic>CLCN2<\/jats:italic> have not been reported in sporadic cases of APAs. We screened 80 apparently sporadic APAs for mutations in <jats:italic>CLCN2<\/jats:italic>. One somatic mutation was identified at p.Gly24Asp in <jats:italic>CLCN2<\/jats:italic>. The male patient had a small adenoma in size but high aldosterone levels preoperatively. Postoperatively, the patient had normal aldosterone levels and was clinically cured.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>In this study, we identified a <jats:italic>CLCN2<\/jats:italic> mutation in a sporadic APA comprising about 1% of all APAs investigated. This mutation was complementary to mutations in other susceptibility genes for sporadic APAs and may thus be a driving mutation in APA formation.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-19-0377","type":"journal-article","created":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T12:59:27Z","timestamp":1567774767000},"page":"K37-K41","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":84,"title":["A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma"],"prefix":"10.1093","volume":"181","author":[{"given":"Ravi Kumar","family":"Dutta","sequence":"first","affiliation":[{"name":"1Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Link\u00f6ping University, Link\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Arnesen","sequence":"additional","affiliation":[{"name":"2Department of Surgery, Haukeland University Hospital, Bergen, Norway"},{"name":"3Department of Biological Sciences, University of Bergen, Bergen, Norway"},{"name":"4Department of Biomedicine, University of Bergen, Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anette","family":"Heie","sequence":"additional","affiliation":[{"name":"2Department of Surgery, Haukeland University Hospital, Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Walz","sequence":"additional","affiliation":[{"name":"5Klinik f\u00fcr Chirurgie and Zentrum f\u00fcr Minimal Invasive Chirurgie, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Alesina","sequence":"additional","affiliation":[{"name":"5Klinik f\u00fcr Chirurgie and Zentrum f\u00fcr Minimal Invasive Chirurgie, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"S\u00f6derkvist","sequence":"additional","affiliation":[{"name":"1Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Link\u00f6ping University, Link\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Gimm","sequence":"additional","affiliation":[{"name":"1Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Link\u00f6ping University, Link\u00f6ping, Sweden"},{"name":"6Department of Surgery, Region \u00d6sterg\u00f6tland, Link\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/181\/5\/EJE-19-0377.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/181\/5\/EJE-19-0377.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:13:35Z","timestamp":1676391215000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/181\/5\/K37\/6654091"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje-19-0377","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11]]}}}