{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:18Z","timestamp":1772160078205,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Bosch\u2013Boonstra\u2013Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disease characterized by developmental delay, intellectual disability, and optic atrophy with a variable expression of other clinical features (dysmorphic features, autistic behaviour, corpus callosum hypoplasia and seizures). To date, approximately a hundred cases of the syndrome have been described, with an estimated prevalence of 1 in 100\u2009000\u2013250\u2009000. BBSOAS is caused by the loss of function of the NR2F1 gene (nuclear receptor subfamily 2 group F member 1), which encodes the COUP\u2010TFI (Chicken ovalbumin upstream promotor\u2010transcription factor 1). COUP\u2010TFI functions as a homodimer and is one of the major transcriptional regulators directing cortical arealization, cell differentiation and maturation. Most cases of BBSOAS occur de novo, and one case was previously described in which the disease resulted from gonadal mosaicism. In the present case, we report two sisters with BBSOAS, a novel nonsense mutation in the NR2F1 gene and potential gonadal mosaicism as the cause of this rare disease, making it the second such case described in the literature.<\/jats:p>","DOI":"10.1111\/cge.14623","type":"journal-article","created":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T02:44:54Z","timestamp":1727750694000},"page":"786-787","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Second Case of Gonadal Mosaicism and a Novel Nonsense\n                    <scp>NR2F1<\/scp>\n                    Gene Variant as the Cause of Bosch\u2013Boonstra\u2013Schaaf Optic Atrophy Syndrome"],"prefix":"10.1111","volume":"106","author":[{"given":"Nenad","family":"Hrvatin","sequence":"first","affiliation":[{"name":"Clinical Hospital Centre Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6725-7618","authenticated-orcid":false,"given":"Nina","family":"Pereza","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Biology and Genetics University of Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tea","family":"\u010caljku\u0161i\u0107\u2010Mance","sequence":"additional","affiliation":[{"name":"Clinics for Ophthalmology Clinical Hospital Centre Rijeka  Rijeka Croatia"},{"name":"Faculty of Medicine, Department of Ophthalmology University of Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara Mi\u0161ljenovi\u0107","family":"Vu\u010deri\u0107","sequence":"additional","affiliation":[{"name":"Clinics for Ophthalmology Clinical Hospital Centre Rijeka  Rijeka Croatia"},{"name":"Faculty of Medicine, Department of Ophthalmology University of Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa\u0161a","family":"Ostoji\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Biology and Genetics University of Rijeka  Rijeka Croatia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alenka","family":"Hod\u017ei\u0107","sequence":"additional","affiliation":[{"name":"Clinical Institute for Genomic Medicine University Hospital Centre Ljubljana  Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ale\u0161","family":"Maver","sequence":"additional","affiliation":[{"name":"Clinical Institute for Genomic Medicine University Hospital Centre Ljubljana  Ljubljana Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute for Genomic Medicine University Hospital Centre Ljubljana  Ljubljana 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