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

Ophthalmic Genetics
Sung Eun ParkJinu Han

Abstract

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 high...Continue Reading

References

Jan 24, 2004·Developmental Biology·Hideki YamaguchiMing-Jer Tsai
Dec 15, 2012·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Lingkun KongPaul G Steinkuller
Jan 10, 2013·American Journal of Medical Genetics. Part a·Hussam Al-KatebMarwan Shinawi
Jan 28, 2014·American Journal of Human Genetics·Daniëlle G M BoschChristian P Schaaf
Aug 5, 2014·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Corinna M BauerLotfi B Merabet
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Sep 10, 2015·European Journal of Human Genetics : EJHG·Daniëlle G M BoschBert B A de Vries
Nov 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Chun-An ChenChristian Schaaf

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