{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T20:19:05Z","timestamp":1787602745241,"version":"build-2736575974"},"reference-count":25,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T00:00:00Z","timestamp":1695600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T00:00:00Z","timestamp":1695600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Nephrol Dial"],"abstract":"Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the <i>WDR73<\/i> gene, and more recently, four new pathogenic genes, <i>OSGEP, LAGE3, TP53RK,<\/i> and <i>TPRKB<\/i>, have been identified. In the present study, we report a new mutation of c.290T&gt;G (p.L97R) <i>LAGE3<\/i> in a 4-year-old boy with specific urological and nephrological complications. The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. This patient also had mutations in two other genes: <i>TRPC6<\/i> and <i>NUP160<\/i>, make the clinical presentation of this patient more diverse. Our novel findings add to the spectrum of pathogenic variants in the <i>LAGE3<\/i> gene. In addition, early genetic diagnosis of GAMOS is essential for genetic counseling and prenatal care. <\/jats:p>","DOI":"10.1159\/000533580","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:07:40Z","timestamp":1697058460000},"page":"148-155","source":"Crossref","is-referenced-by-count":3,"title":["Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report"],"prefix":"10.1159","volume":"13","author":[{"given":"Limin","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2023,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3933"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-872842"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2007.12.007"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19990129)82:3%3c257::aid-ajmg12%3e3.0.co;2-7"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-018-0820-4"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv153"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2017.130"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.4.319"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.011"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-4060-x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1126\/science.1106215"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2017.06.010"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-018-1648-3"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.09.039"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006091010"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2018.08.007"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00095.2013"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200108007"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2016.147"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104237"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.12.015"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.10.013"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37533"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25370"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s004670200003"}],"container-title":["Case Reports in Nephrology and Dialysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cnd\/article-pdf\/13\/1\/148\/4082038\/000533580.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cnd\/article-pdf\/13\/1\/148\/4082038\/000533580.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:37:54Z","timestamp":1745422674000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000533580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,25]]},"references-count":25,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000533580","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.24160920","asserted-by":"subject"}]},"ISSN":["2296-9705"],"issn-type":[{"value":"2296-9705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,25]]}}}