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Article

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

European journal of medical genetics - 1 Oct 2020

Walsh Sonja, Gösswein Sophie Scarlett, Rump Andreas, von der Hagen Maja, Hackmann Karl, Schröck Evelin, Di Donato Nataliya, Kahlert Anne-Karin

Abstract excerpt

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common characteristics include developmental delay, intellectual disability, optic nerve atrophy, hypotonia, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Missense mutations in...

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PMID: 32712214
DOI: 10.1016/j.ejmg.2020.104019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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