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Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study

Bojanek, Erin K.
Mosconi, Matthew W.
Guter, Stephen
Betancur, Catalina
Macmillan, Carol
Cook, Edwin H.
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Abstract
Nuclear receptor subfamily 2 group F member 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf 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 NR2F1 (NM_005654.5:c.82C > T, 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-matched 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.
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This is the peer reviewed version of the following article: Bojanek, EK, Mosconi, MW, Guter, S, Betancur, C, Macmillan, C, Cook, EH. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. Am J Med Genet Part A. 2020; 182: 213–218. https://doi.org/10.1002/ajmg.a.61409, which has been published in final form at https://doi.org/10.1002/ajmg.a.61409. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
Date
2019-11-15
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Wiley
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Keywords
Autism, Bosch-Boonstra-Schaaf optic atrophy syndrome, Cognitive discrepancy, NR2F1
Citation
Bojanek, EK, Mosconi, MW, Guter, S, Betancur, C, Macmillan, C, Cook, EH. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. Am J Med Genet Part A. 2020; 182: 213–218. https://doi.org/10.1002/ajmg.a.61409
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