Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

Abstract Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological fun...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/c613dde51467479aa4529965d8eacc79
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:c613dde51467479aa4529965d8eacc79
record_format	dspace
spelling	oai:doaj.org-article:c613dde51467479aa4529965d8eacc792021-12-02T15:06:27ZAdult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy10.1038/s41598-017-09629-92045-2322https://doaj.org/article/c613dde51467479aa4529965d8eacc792017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-09629-9https://doaj.org/toc/2045-2322Abstract Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological functional defects. The 51-year-old patient presented bilateral small subretinal yellow deposits. Consistent with AVMD, the corresponding lesions showed hyperautofluorescence, late staining in fluorescein angiography, and subretinal hyper-reflective materials in spectral-domain optical coherence tomography. Genetic analysis demonstrated that the patient presented with a heterozygous p.Ile38Ser BEST1 mutation. Surface biotinylation and patch clamp experiments were performed in transfected HEK293T cells. Although, the identified BEST1 mutant maintains normal membrane expression, p.Ile38Ser mutant showed significantly smaller currents than wild type (WT). However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). The cells expressing both WT and each BEST1 mutant showed that the functional defect of p.Ile38ser was milder than that of p.Trp93Cys, whereas combination of p.Ala195Val with WT showed good current. We identified and described the phenotype and in vitro functions of a novel BEST1 mutation causing AVMD. AVMD induced by p.Ile38Ser BEST1 mutation is a mild form of BVMD.Ikhyun JunJoon Suk LeeJi Hwan LeeChristopher Seungkyu LeeSeung-il ChoiHeon Yung GeeMin Goo LeeEung Kweon KimNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ikhyun Jun Joon Suk Lee Ji Hwan Lee Christopher Seungkyu Lee Seung-il Choi Heon Yung Gee Min Goo Lee Eung Kweon Kim Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
description	Abstract Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological functional defects. The 51-year-old patient presented bilateral small subretinal yellow deposits. Consistent with AVMD, the corresponding lesions showed hyperautofluorescence, late staining in fluorescein angiography, and subretinal hyper-reflective materials in spectral-domain optical coherence tomography. Genetic analysis demonstrated that the patient presented with a heterozygous p.Ile38Ser BEST1 mutation. Surface biotinylation and patch clamp experiments were performed in transfected HEK293T cells. Although, the identified BEST1 mutant maintains normal membrane expression, p.Ile38Ser mutant showed significantly smaller currents than wild type (WT). However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). The cells expressing both WT and each BEST1 mutant showed that the functional defect of p.Ile38ser was milder than that of p.Trp93Cys, whereas combination of p.Ala195Val with WT showed good current. We identified and described the phenotype and in vitro functions of a novel BEST1 mutation causing AVMD. AVMD induced by p.Ile38Ser BEST1 mutation is a mild form of BVMD.
format	article
author	Ikhyun Jun Joon Suk Lee Ji Hwan Lee Christopher Seungkyu Lee Seung-il Choi Heon Yung Gee Min Goo Lee Eung Kweon Kim
author_facet	Ikhyun Jun Joon Suk Lee Ji Hwan Lee Christopher Seungkyu Lee Seung-il Choi Heon Yung Gee Min Goo Lee Eung Kweon Kim
author_sort	Ikhyun Jun
title	Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
title_short	Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
title_full	Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
title_fullStr	Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
title_full_unstemmed	Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy
title_sort	adult-onset vitelliform macular dystrophy caused by best1 p.ile38ser mutation is a mild form of best vitelliform macular dystrophy
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/c613dde51467479aa4529965d8eacc79
work_keys_str_mv	AT ikhyunjun adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT joonsuklee adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT jihwanlee adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT christopherseungkyulee adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT seungilchoi adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT heonyunggee adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT mingoolee adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy AT eungkweonkim adultonsetvitelliformmaculardystrophycausedbybest1pile38sermutationisamildformofbestvitelliformmaculardystrophy
_version_	1718388478293573632

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

Ejemplares similares