{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:30Z","timestamp":1786976850600,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T00:00:00Z","timestamp":1637107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bosch\u2013Boonstra\u2013Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features. Pathogenic variants in the\n                    <jats:italic>NR2F1<\/jats:italic>\n                    (nuclear receptor subfamily 2 group F member 1) gene have been linked to this condition. A recent report has shown that pathogenic variants in the start codon lead to decreased expression of the NR2F1 protein and a relatively mild phenotype, similar to that seen in whole gene deletions, and due to the lack of the dominant negative effect. Here we describe a severe case of BBSOAS with an initiation codon missense variant. The developmental delay, seizures, optic atrophy are in keeping with features observed in this condition, however this is the first report to describe colobomas and septo\u2010optic dysplasia as associated features potentially extending the phenotype linked to BBSOAS. In addition, this is the first description of a severe phenotype linked to a\n                    <jats:italic>de novo<\/jats:italic>\n                    missense variant in the start codon of the\n                    <jats:italic>NR2F1<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62569","type":"journal-article","created":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T05:56:59Z","timestamp":1637128619000},"page":"900-906","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A severe case of Bosch\u2013\n                    <scp>Boonstra\u2013Schaaf<\/scp>\n                    optic atrophy syndrome with a novel description of coloboma and septo\u2010optic dysplasia, owing to a start codon variant in the\n                    <scp>\n                      <i>NR2F1<\/i>\n                    <\/scp>\n                    gene"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5039-1033","authenticated-orcid":false,"given":"Gabriella","family":"Gazdagh","sequence":"first","affiliation":[{"name":"Wessex Clinical Genetics Service, Princess Anne Hospital University Hospital Southampton NHS Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9158-2354","authenticated-orcid":false,"given":"Rebecca","family":"Mawby","sequence":"additional","affiliation":[{"name":"Human Development and Health, Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay E.","family":"Self","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Sciences Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Department of Ophthalmology University Hospital Southampton NHS Trust  Southampton 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