Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

Abstract Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked...

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Autores principales:	Yafang Wang, Shu Liu, Yuanqi Zhai, Yang Liu, Xiaoling Wan, Wenqiu Wang, Fenghua Wang, Xiaodong Sun
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Cone-rod dystrophy RPGR Mutation Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/b5641c5b625847eba5a9bd7b03ee1ef7
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spelling	oai:doaj.org-article:b5641c5b625847eba5a9bd7b03ee1ef72021-11-21T12:42:53ZIdentification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family10.1186/s12886-021-02166-01471-2415https://doaj.org/article/b5641c5b625847eba5a9bd7b03ee1ef72021-11-01T00:00:00Zhttps://doi.org/10.1186/s12886-021-02166-0https://doaj.org/toc/1471-2415Abstract Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family. Methods All six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry. Results A novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis. Conclusions Our findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD.Yafang WangShu LiuYuanqi ZhaiYang LiuXiaoling WanWenqiu WangFenghua WangXiaodong SunBMCarticleCone-rod dystrophyRPGRMutationOphthalmologyRE1-994ENBMC Ophthalmology, Vol 21, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Cone-rod dystrophy RPGR Mutation Ophthalmology RE1-994
spellingShingle	Cone-rod dystrophy RPGR Mutation Ophthalmology RE1-994 Yafang Wang Shu Liu Yuanqi Zhai Yang Liu Xiaoling Wan Wenqiu Wang Fenghua Wang Xiaodong Sun Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
description	Abstract Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family. Methods All six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry. Results A novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis. Conclusions Our findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD.
format	article
author	Yafang Wang Shu Liu Yuanqi Zhai Yang Liu Xiaoling Wan Wenqiu Wang Fenghua Wang Xiaodong Sun
author_facet	Yafang Wang Shu Liu Yuanqi Zhai Yang Liu Xiaoling Wan Wenqiu Wang Fenghua Wang Xiaodong Sun
author_sort	Yafang Wang
title	Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
title_short	Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
title_full	Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
title_fullStr	Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
title_full_unstemmed	Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
title_sort	identification of a novel rpgr mutation associated with x-linked cone-rod dystrophy in a chinese family
publisher	BMC
publishDate	2021
url	https://doaj.org/article/b5641c5b625847eba5a9bd7b03ee1ef7
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Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

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