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Article

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Clinical genetics - 1 Aug 2025

Valentin Ilia, Caro Pilar, Fischer Christine, Brennenstuhl Heiko, Schaaf Christian P

Abstract excerpt

(Likely) pathogenic variants in NR2F1 are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, OMIM #615722), a rare neurodevelopmental disorder. Patients present with a variety of symptoms, including intellectual disability, developmental delay, visual impairment, muscular hypotonia, seizures, and/or autistic features. Since it was first described in 2014, the phenotype has steadily expanded....

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Source

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Identifiers

PMID: 39972940
DOI: 10.1111/cge.14731
PMCID: PMC12215215

Genes

NR2F1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.PMID 39972940Read ↗

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.Semantic proximity Read ↗

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.Semantic proximity Read ↗

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.Semantic proximity Read ↗

NR2F1 database: 111 variants and 83 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndromeSemantic proximity Read ↗

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.Semantic proximity Read ↗

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.Semantic proximity Read ↗

[Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay].Semantic proximity Read ↗

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.Semantic proximity Read ↗

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.Semantic proximity Read ↗

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Semantic proximity Read ↗

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.Semantic proximity Read ↗

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