Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study - Archive ouverte HAL Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2019

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

(1, 2) , (1, 2) , (3) , (4) , (5) , (3)
1
2
3
4
5

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 non-verbal 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.
Fichier principal
Vignette du fichier
Bojanek Bosch-Boonstra-Schaaf optic atrophy syndrome AJMG Part A 2020.pdf (168.3 Ko) Télécharger le fichier
Origin : Files produced by the author(s)
Loading...

Dates and versions

inserm-02479951 , version 1 (14-02-2020)

Identifiers

Cite

Erin K Bojanek, Matthew W Mosconi, Stephen J. Guter, Catalina Betancur, Carol Macmillan, et al.. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. American Journal of Medical Genetics Part A, 2019, 182 (1), pp.213-218. ⟨10.1002/ajmg.a.61409⟩. ⟨inserm-02479951⟩
179 View
302 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More