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Alterations in <jats:italic>NR2F1<\/jats:italic> cause Bosch\u2010Boonstra\u2010Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. This study describes the clinical and neurocognitive features of an individual with a de novo nonsense variant in <jats:italic>NR2F1<\/jats:italic> (NM_005654.5:c.82C\u2009&gt;\u2009T, p.Gln28*), identified by whole exome sequencing. The patient was diagnosed with autism spectrum disorder (ASD) and unlike most previously reported cases, he had no developmental delay, superior verbal abilities (verbal IQ = 141), and high educational attainment despite reduced nonverbal abilities (nonverbal IQ = 63). He had optic nerve hypoplasia with minimal visual impairment as well as mild dysmorphic features. Compared to both age\u2010matched individuals with ASD and healthy controls, the patient showed reductions in manual motor speed, accuracy of saccadic eye movements, and rates of successful behavioral response inhibition. Although the majority of previously reported cases of BBSOAS have been associated with more global intellectual dysfunction, we report on a patient with selective disruption of nonverbal abilities and superior verbal abilities.<\/jats:p>","DOI":"10.1002\/ajmg.a.61409","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T09:18:02Z","timestamp":1573809482000},"page":"213-218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinical and neurocognitive issues associated with Bosch\u2010Boonstra\u2010Schaaf optic atrophy syndrome: A case study"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7390-5463","authenticated-orcid":false,"given":"Erin K.","family":"Bojanek","sequence":"first","affiliation":[{"name":"Schiefelbusch Institute for Life Span Studies and Clinical Child Psychology Program University of Kansas  Lawrence Kansas"},{"name":"Kansas Center for Autism Research and Training (K\u2010CART) University of Kansas Medical Center  Overland Park Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew W.","family":"Mosconi","sequence":"additional","affiliation":[{"name":"Schiefelbusch Institute for Life Span Studies and Clinical Child Psychology Program University of Kansas  Lawrence Kansas"},{"name":"Kansas Center for Autism Research and Training (K\u2010CART) University of Kansas Medical Center  Overland Park Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Guter","sequence":"additional","affiliation":[{"name":"Institute for Juvenile Research University of Illinois at Chicago  Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Betancur","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Neuroscience Paris Seine Institut de Biologie Paris Seine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Macmillan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Chicago  Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin H.","family":"Cook","sequence":"additional","affiliation":[{"name":"Institute for Juvenile Research University of Illinois at Chicago  Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35650"},{"key":"e_1_2_8_3_1","first-page":"485","article-title":"The Aberrant Behavior Checklist: A behavior rating scale for the assessment of treatment effects","volume":"89","author":"Aman M. 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