{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:06:53Z","timestamp":1789153613453,"version":"build-2803163510"},"reference-count":9,"publisher":"BMJ","issue":"9","funder":[{"DOI":"10.13039\/100007605","name":"Aarhus Universitet","doi-asserted-by":"publisher","award":["852885"],"award-info":[{"award-number":["852885"]}],"id":[{"id":"10.13039\/100007605","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,24]]},"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterised by a broad phenotypic spectrum and variable expressivity with characteristic ocular anterior segment dysgenesis, glaucoma and systemic manifestations. ARS is primarily associated with pathogenic variants in\n                    <jats:italic>FOXC1<\/jats:italic>\n                    and\n                    <jats:italic>PITX2<\/jats:italic>\n                    , which both exhibit autosomal dominant inheritance with overlapping ocular findings but distinct systemic manifestations.\n                  <\/jats:p>\n                  <jats:p>\n                    Numerous different variants in\n                    <jats:italic>FOXC1<\/jats:italic>\n                    and\n                    <jats:italic>PITX2<\/jats:italic>\n                    have previously been described. Here we present a patient with heterozygosity for a previously unreported pathogenic variant in\n                    <jats:italic>FOXC1<\/jats:italic>\n                    and a phenotype with significant ocular anterior segment dysgenesis, thereby contributing relevant clinical information about the genetic and phenotypic spectrum of ARS, reproductive considerations and importance of genetic counselling.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-272157","type":"journal-article","created":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:15:18Z","timestamp":1789150518000},"page":"e272157","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Previously unreported pathogenic variant in\n                    <i>FOXC1<\/i>\n                    causing Axenfeld-Rieger syndrome with significant ocular anterior segment dysgenesis"],"prefix":"10.1136","volume":"19","author":[{"given":"Thomas Kromann","family":"N\u00f8hr","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorte Ancher","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Stougaard","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Telinius","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Engholm","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille A","family":"Gregersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"},{"name":"Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,9,11]]},"reference":[{"key":"2026091111151361000_19.9.e272157.1","first-page":"613","article-title":"A second locus for Rieger syndrome maps to chromosome 13q14","volume":"59","author":"Phillips","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2026091111151361000_19.9.e272157.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-108646"},{"key":"2026091111151361000_19.9.e272157.3","doi-asserted-by":"crossref","first-page":"819","DOI":"10.2147\/OPTH.S379853","article-title":"Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives","volume":"17","author":"Michels","year":"2023","journal-title":"Clin Ophthalmol"},{"key":"2026091111151361000_19.9.e272157.4","doi-asserted-by":"crossref","first-page":"109307","DOI":"10.1016\/j.exer.2022.109307","article-title":"Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome","volume":"226","author":"Zhou","year":"2023","journal-title":"Exp Eye Res"},{"key":"2026091111151361000_19.9.e272157.5","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.93"},{"key":"2026091111151361000_19.9.e272157.6","first-page":"736","article-title":"Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome","volume":"81","author":"Shields","year":"1983","journal-title":"Trans Am Ophthalmol Soc"},{"key":"2026091111151361000_19.9.e272157.7","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1038\/s41436-020-0844-z","article-title":"Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)","volume":"22","author":"Wu","year":"2020","journal-title":"Genet Med"},{"key":"2026091111151361000_19.9.e272157.8","unstructured":"Chao K; gnomAD Production Team . GnomAD v4.0. gnomAD Browser; 2023."},{"key":"2026091111151361000_19.9.e272157.9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:15:21Z","timestamp":1789150521000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":9,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2026,9,11]]},"published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1136\/bcr-2026-272157"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272157","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]}}}