Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.[2][3][4]

Bosch-Boonstra-Schaaf optic atrophy syndrome
Other namesBBSOAS [1]
This condition is inherited via autosomal dominant manner
Causesmutations in the NR2F1 gene

Presentation

All patients described suffered from developmental delay, intellectual disability (intelligence quotient range 48-74) and decreased visual acuity. Ocular abnormalities include small discs, pale discs, disc excavation, strabismus and latent nystagmus.

Other features of this condition are somewhat variable and include

  • Facial
    • Protruding ears
    • Helical anomalies
    • Small nasal ridge
    • High nasal bridge
    • Upturned nose
    • Epicanthal folds
    • Upslanting palpebral fissures

Genetics

This condition is caused by mutations in the NR2F1 gene. This gene is located on the long arm of chromosome 5 (5q15).The gene encodes a protein that acts as a nuclear receptor and transcriptional regulator.This condition is inherited in an autosomal dominant fashion.

Management

There is no curative treatment known at present for his condition. Management is supportive.

Epidemiology

This condition is considered to be rare with less than 50 cases described in the literature up to 2019.

History

This condition was first described in 2014.[5]

References
  1. "OMIM Entry - # 615722 - BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS". omim.org. Retrieved 19 January 2020.
  2. Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94: 303-309
  3. Chen CA, Bosch DG, Cho MT7, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C (2016)The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med 18(11):1143-1150
  4. Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP (2019) Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet
  5. Bosch DGM, Boonstra FN, Gonzaga-Jauregui C, Xu, M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers L E, Spruijt L, and 12 others. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94: 303-309
Classification
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