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

Abstract excerpt

BACKGROUND: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the NR2F1 gene. The syndrome is characterized by a complex phenotype including optic nerve atrophy, global developmental delay, intellectual disability, and seizures. We report a patient with this syndrome whose prominent clinical presentation included...

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