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A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy

DC FieldValueLanguage
dc.contributor.author김응권-
dc.contributor.author이민구-
dc.contributor.author이성철-
dc.contributor.author이승규-
dc.contributor.author이지환-
dc.contributor.author전익현-
dc.contributor.author최승일-
dc.date.accessioned2018-03-26T17:00:27Z-
dc.date.available2018-03-26T17:00:27Z-
dc.date.issued2015-
dc.identifier.issn0146-0404-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/157069-
dc.description.abstractPURPOSE: To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS: Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence imaging, spectral-domain optical coherence tomography (OCT), electroretinography (ERG), and electrooculography (EOG). Subsequently, genetic analysis for bestrophin-1 (BEST1) mutations was conducted through direct Sanger sequencing. The effect of ARB-associated mutations of BEST1 on the cellular localization was determined by in vitro experiments. Whole-cell patch clamping was conducted to measure the chloride conductance of wild-type BEST1 and the identified BEST1 mutants in transfected HEK293T cells. RESULTS: Two related patients (66-year-old brother and 52-year-old sister) presented with reduced visual acuity and bilateral symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole. Spectral-domain OCT showed macular thinning with submacular fluid. The female patient had a concomitant macular edema associated with branched retinal vein occlusion in the left eye, which responded well to intravitreal bevacizumab injections. Genetic analysis demonstrated that both patients were compound heterozygous for one novel (Leu40Pro) and one previously identified (Ala195Val) BEST1 variant. HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance. Cellular localization of BEST1 was well conserved to the plasma membrane in the mutants. CONCLUSIONS: We have identified and described the phenotype and in vitro functional aspects of a new BEST1 mutation causing ARB. Clinically suspected ARB cases warrant genetic confirmation to confirm the diagnosis.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherAssociation For Research In Vision And Ophthalmology (Arvo)-
dc.relation.isPartOfINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAged-
dc.subject.MESHBestrophins-
dc.subject.MESHChloride Channels/genetics*-
dc.subject.MESHChloride Channels/metabolism-
dc.subject.MESHDNA/genetics*-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHElectrooculography-
dc.subject.MESHElectroretinography-
dc.subject.MESHEye Diseases, Hereditary/diagnosis-
dc.subject.MESHEye Diseases, Hereditary/genetics*-
dc.subject.MESHEye Diseases, Hereditary/metabolism-
dc.subject.MESHEye Proteins/genetics*-
dc.subject.MESHEye Proteins/metabolism-
dc.subject.MESHFemale-
dc.subject.MESHFluorescein Angiography-
dc.subject.MESHFundus Oculi-
dc.subject.MESHGenes, Recessive-
dc.subject.MESHGenetic Testing-
dc.subject.MESHHEK293 Cells-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation*-
dc.subject.MESHPedigree-
dc.subject.MESHPhenotype-
dc.subject.MESHRetinal Diseases/diagnosis-
dc.subject.MESHRetinal Diseases/genetics*-
dc.subject.MESHRetinal Diseases/metabolism-
dc.subject.MESHRetinal Pigment Epithelium/metabolism*-
dc.subject.MESHRetinal Pigment Epithelium/pathology-
dc.subject.MESHRetinal Pigment Epithelium/physiopathology-
dc.subject.MESHTomography, Optical Coherence-
dc.titleA Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Ophthalmology-
dc.contributor.googleauthorChristopher Seungkyu Lee-
dc.contributor.googleauthorIkhyun Jun-
dc.contributor.googleauthorSeung-il Choi-
dc.contributor.googleauthorJi Hwan Lee-
dc.contributor.googleauthorMin Goo Lee-
dc.contributor.googleauthorSung Chul Lee-
dc.contributor.googleauthorEung Kweon Kim-
dc.identifier.doi10.1167/iovs.15-18168-
dc.contributor.localIdA02873-
dc.contributor.localIdA00831-
dc.contributor.localIdA02781-
dc.contributor.localIdA02913-
dc.contributor.localIdA03222-
dc.contributor.localIdA04099-
dc.contributor.localIdA03541-
dc.relation.journalcodeJ01187-
dc.identifier.eissn1552-5783-
dc.identifier.pmid26720466-
dc.contributor.alternativeNameKim, Eung Kweon-
dc.contributor.alternativeNameLee, Min Goo-
dc.contributor.alternativeNameLee, Sung Chul-
dc.contributor.alternativeNameLee, Seung Kyu-
dc.contributor.alternativeNameLee, Ji Hwan-
dc.contributor.alternativeNameJun, Ik Hyun-
dc.contributor.alternativeNameChoi, Seung Il-
dc.contributor.affiliatedAuthorLee, Sung Chul-
dc.contributor.affiliatedAuthorKim, Eung Kweon-
dc.contributor.affiliatedAuthorLee, Min Goo-
dc.contributor.affiliatedAuthorLee, Seung Kyu-
dc.contributor.affiliatedAuthorLee, Ji Hwan-
dc.contributor.affiliatedAuthorChoi, Seung Il-
dc.contributor.affiliatedAuthorJun, Ik Hyun-
dc.citation.volume56-
dc.citation.number13-
dc.citation.startPage8141-
dc.citation.endPage8150-
dc.identifier.bibliographicCitationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol.56(13) : 8141-8150, 2015-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
5. Research Institutes (연구소) > Corneal Dystrophy Research Institute (각막이상증연구소) > 1. Journal Papers

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