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Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome

 Sung Eun Park  ;  Jihei Sara Lee  ;  Seung-Tae Lee  ;  Hye Young Kim  ;  Sueng-Han Han  ;  Jinu Han 
 Ophthalmic Genetics, Vol.40(4) : 359-361, 2019 
Journal Title
 Ophthalmic Genetics 
Issue Date
Bosch-Boonstra-Schaaf optic atrophy syndrome ; NR2F1 ; cortical visual impairment ; optic atrophy
Background: Nuclear hormone receptor gene, NR2F1, plays a key role in brain and eye development. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, MIM #615772) is an autosomal dominant hereditary disorder caused by mutations in this gene. However, there have been few studies describing fundus and optical coherence tomography findings on BBSOAS. Materials and methods: The patient underwent a detailed clinical evaluation and ophthalmic imaging followed by targeted panel next-generation sequencing analysis. Results: A 7-year-old Korean boy, with a history of delayed development and borderline intellectual functioning, was referred to our clinic for evaluation of low vision. He was born full-term with no perinatal insults. Best-corrected visual acuity was 20/100 in both eyes, and latent nystagmus was noted. Dilated fundus examinations revealed optic atrophy in both eyes, and optical coherence tomography showed diffuse thinning of retinal nerve fiber layers. Targeted panel next-generation sequencing showed novel c.513C>G; p.Tyr171Ter (NM_005654.4) in NR2F1 gene. This stop-gain mutation was predicted to be deleterious by in silico prediction programs, and was absent in the current population genomic database. Conclusions: We highlighted the value of genetic testing in definite diagnosis of BBSOAS in patients with unexplained optic atrophy.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Park, Sung Eun(박성은)
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Han, Seung Han(한승한) ORCID logo https://orcid.org/0000-0001-8972-4790
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
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