Bosch–Boonstra–Schaaf optic atrophy syndrome
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| Bosch–Boonstra–Schaaf optic atrophy syndrome | |
|---|---|
| Other names | BBSOAS[1] |
 | |
| This condition is inherited via autosomal dominant manner. | |
| Causes | mutations in the NR2F1 gene |
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]
Presentation[edit]
All patients described have 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 indicators
- Protruding ears
- Helical anomalies
- Small nasal ridge
- High nasal bridge
- Upturned nose
- Epicanthal folds
- Upslanting palpebral fissures
- Skeletal indicators
- Tapering fingers
- Hypotonia
Genetics[edit]
This condition is caused by mutations in the NR2F1 gene. This gene is located on the long arm of chromosome 5 (5q15) and encodes a protein that acts as a nuclear receptor and transcriptional regulator. The syndrome is inherited in an autosomal dominant fashion.[citation needed]
Management[edit]
There is no curative treatment known at present for his condition. Management is supportive.[citation needed]
Epidemiology[edit]
This condition is considered to be rare with fewer than 50 cases described in the modern literature.
History[edit]
This condition was first described in 2014.[2]
References[edit]
- ^ "OMIM Entry – # 615722 – Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Retrieved 19 January 2020.
- ^ a b Bosch, Daniëlle G.M.; Boonstra, F. Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M.; Yntema, Helger G.; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Spruijt, Liesbeth; Blokland, Ellen A.W.; Chen, Chun-An; Lewis, Richard A.; Tsai, Sophia Y.; Gibbs, Richard A.; Tsai, Ming-Jer; Lupski, James R.; Zoghbi, Huda Y.; Cremers, Frans P.M.; de Vries, Bert B.A.; Schaaf, Christian P. (2014). "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability". The American Journal of Human Genetics. 94 (2). Elsevier BV: 303–309. doi:10.1016/j.ajhg.2014.01.002. ISSN 0002-9297. PMC 3928641.
- ^ Chen, Chun-An; Bosch, Daniëlle G.M.; Cho, Megan T.; Rosenfeld, Jill A.; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G.; Elmslie, Frances; Douglas, Ganka; Boonstra, F. Nienke; Millan, Francisca; Cremers, Frans P.M.; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K.; Niyazov, Dmitriy; Pascual, Juan M.; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M.; de Vries, Bert B.A.; Schaaf, Christian (2016). "The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations". Genetics in Medicine. 18 (11). Elsevier BV: 1143–1150. doi:10.1038/gim.2016.18. ISSN 1098-3600.
- ^ Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P (2020-03-27). "Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity". Human Molecular Genetics. 29 (5): 705–715. doi:10.1093/hmg/ddz233. ISSN 0964-6906. PMC 7104670. PMID 31600777.