{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T04:54:29Z","timestamp":1790830469558,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bosch\u2013Boonstra\u2013Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss\u2010of\u2010function variants in <jats:italic>NR2F1<\/jats:italic> and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in\u2010frame deletions in the DNA\u2010binding domain (DBD), and 32 individuals with other types of variants including whole\u2010gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses\/features thereof, cognitive\/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long\u2010term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype\u2013phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.61580","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T12:09:10Z","timestamp":1586520550000},"page":"1426-1437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Phenotypic expansion of <scp>Bosch\u2013Boonstra\u2013Schaaf<\/scp> optic atrophy syndrome and further evidence for genotype\u2013phenotype correlations"],"prefix":"10.1002","volume":"182","author":[{"given":"Megan E.","family":"Rech","sequence":"first","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"McCarthy","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun\u2010An","family":"Chen","sequence":"additional","affiliation":[{"name":"Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane C.","family":"Edmond","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Dell Medical School, University of Texas at Austin  Austin Texas USA"},{"name":"Division of Ophthalmology Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Ophthalmology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veeral S.","family":"Shah","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Ophthalmology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani\u00eblle G. M.","family":"Bosch","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linford","family":"Williams","sequence":"additional","affiliation":[{"name":"Children's Hospital of Pittsburgh of UPMC  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan\u2010Khetarpal","sequence":"additional","affiliation":[{"name":"Children's Hospital of Pittsburgh of UPMC  Pittsburgh Pennsylvania 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