NR2F1 gene


Gene (OMIM No.)
Function of gene/protein
  • Nuclear receptor subfamily 2, group F, member 1
  • Involved in neural development and differentiation
Clinical phenotype
(OMIM phenotype no.)
  • Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (#615722)
  • Autosomal dominant
Ocular features
  • Optic atrophy
  • Nystagmus
Visual function
  • Progressive vision loss
Systemic features
  • Intellectual disability
  • Autism spectrum disorder
Key investigations
  • Genetic testing: identification of NR2F1 mutations
  • Nerve conduction studies
  • Supportive care and educational interventions
  • Regular neurological and ophthalmological follow-up
Therapies under research
  • None currently specified

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  1.  Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, De Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE. NR2F1 mutations cause optic atrophy with intellectual disability. The American Journal of Human Genetics. 2014 Feb 6;94(2):303-9.

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Updated on July 5, 2024
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