European Journal of Medical Genetics, 2020 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping features with congenital disorders of glycosylation (CDG), the differential diagnosis between these disorders
Rodrigo Tzovenos Starosta +2 more
exaly +3 more sources
Indian Journal of Ophthalmology, 2022 Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy.
Ayça Kocaaga, Sevgi Yimenicioğlu
exaly +3 more sources
Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch–Boonstra–Schaaf optic atrophy syndrome in a Chinese patient [PDF]
Frontiers in MedicinePurposeThis study aimed to report the clinical characteristics, genetic findings, and treatment outcomes of a Chinese patient with Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) caused by a mutation in the NR2F1 gene.MethodA retrospective chart ...
Shuyu Tang +5 more
doaj +2 more sources
Preverbal visual assessment for screening cerebral visual impairment: Diagnostic accuracy and clinical utility. [PDF]
Dev Med Child NeurolAbstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Harpster KL +5 more
europepmc +2 more sources
A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome [PDF]
HereditasIntroduction Nuclear receptor subfamily 2, group F, member 1 (NR2F1) gene variations are associated with Bosch–Boonstra–Schaaf optic atrophy syndrome.
Juan Liu +4 more
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Mapping of chromatin architecture and enhancer-promoter interactions in the cochlea [PDF]
Frontiers in Molecular BiosciencesIntroductionChromatin interactions, particularly those between promoters and distal enhancers, enable precise gene regulation in specialized tissues, like the cochlea in the inner ear.
Tuba Ege +4 more
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Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion. [PDF]
Protein SciAbstract Deciphering the structural effects of gene variants is essential for understanding the pathophysiological mechanisms of genetic diseases. Using a neurodevelopmental disorder called Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome (BBSOAS) as a genetic disease model, we applied structural bioinformatics and Genetic Code Expansion (GCE) strategies ...
Marino V +6 more
europepmc +2 more sources
American Journal of Medical Genetics, Part A, 2020 Abstract Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability.
Megan E Rech +2 more
exaly +2 more sources
Conserved DNA methylation signatures in the prefrontal cortex of female newborn and juvenile guinea pigs following antenatal betamethasone exposure. [PDF]
J NeuroendocrinolAbstract Antenatal corticosteroids (ACS) improve perinatal survival when there is a risk of preterm birth. Although evidence suggests an increased risk of developing neurobehavioural disorders in exposed offspring, the mechanisms involved remain largely unknown.
Kim B, Kostaki A, Matthews SG.
europepmc +2 more sources
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome [PDF]
Disease Models & Mechanisms, 2023 Sara Bonzano +13 more
doaj +2 more sources