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Ehrnrooths Stiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008723","name":"Suomen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008723","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To identify germline variants in myocilin (<jats:italic>MYOC<\/jats:italic>) and other known monogenic glaucoma genes in Finnish patients with juvenile open\u2010angle glaucoma (JOAG).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Finnish patients with JOAG treated between 2010 and 2018 at the Department of Ophthalmology, Helsinki University Hospital, Finland, were enrolled. We sequenced all exonic regions and flanking splice sites of <jats:italic>MYOC<\/jats:italic> for five patients and one healthy relative using Sanger sequencing. In 48 patients, we performed exome sequencing to identify variants also in 28 other glaucoma\u2010related genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010three individuals with JOAG from 50 pedigrees, and one healthy relative, participated. The mean age at diagnosis was 30.8\u2009years [SD 7.6; range 11 to 39]. Five probands had probably pathogenic variants in <jats:italic>MYOC<\/jats:italic>: c.1102C&gt;T p.(Gln368Ter), c.1109C&gt;T p.(Pro370Leu), c.1130C&gt;T p.(Thr377Met), c.1132G&gt;A p.(Asp378Asn) and c.1456C&gt;T p.(Leu486Phe). Four of these patients had a family history of dominantly inherited JOAG. The frequency of <jats:italic>MYOC<\/jats:italic> variants was 10% (5 of 50 families). One patient and his mother with JOAG had a novel loss\u2010of\u2010function variant in the <jats:italic>FOXC1<\/jats:italic> gene, c.366G&gt;A p.(Trp122Ter). A patient with sporadic JOAG had a homozygous likely pathogenic variant in the <jats:italic>LTBP2<\/jats:italic> gene, c.3938G&gt;A p.(Cys1313Tyr). The genetic variants explained 14% (7 out of 50 families; 95% CI, 6%\u201323%) of JOAG in our cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The frequency of pathogenic variants in previously known glaucoma\u2010associated genes is low in Finnish patients with JOAG. Because of the distinct genetic background of Finns, it might be possible to identify novel glaucoma genes through our JOAG series in the future.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.15670","type":"journal-article","created":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T05:20:29Z","timestamp":1681104029000},"page":"797-806","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Analysis of glaucoma genes in Finnish patients with juvenile open\u2010angle glaucoma"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3327-5276","authenticated-orcid":false,"given":"Perttu J.","family":"Liuska","sequence":"first","affiliation":[{"name":"Eye Genetics Group, Folkh\u00e4lsan Research Center, Biomedicum Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdessallam","family":"Tadji","sequence":"additional","affiliation":[{"name":"Eye Genetics 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