The phenotypic variability of HK1-associated retinal dystrophy

Abstract Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underl...

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Autores principales:	Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/5fb3890276534bc0b43f0cb5ca6410ac
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spelling	oai:doaj.org-article:5fb3890276534bc0b43f0cb5ca6410ac2021-12-02T11:52:23ZThe phenotypic variability of HK1-associated retinal dystrophy10.1038/s41598-017-07629-32045-2322https://doaj.org/article/5fb3890276534bc0b43f0cb5ca6410ac2017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-07629-3https://doaj.org/toc/2045-2322Abstract Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.E851K variant, which was previously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical phenotypes. Interestingly, we found that in addition to RP, this particular variant can also cause dominant macular dystrophy and cone-rod dystrophy, which primarily affect cone photoreceptors instead of rods. Our results identified pleiotropic effects for an IRD-causing variant and provide more insights into the involvement of a hexokinase in retinal pathogenesis.Zhisheng YuanBaiyu LiMingchu XuEmmanuel Y. ChangHuajin LiLizhu YangShijing WuZachry T. SoensYumei LiLee-Jun C. WongRichard A. LewisRuifang SuiRui ChenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Zhisheng Yuan Baiyu Li Mingchu Xu Emmanuel Y. Chang Huajin Li Lizhu Yang Shijing Wu Zachry T. Soens Yumei Li Lee-Jun C. Wong Richard A. Lewis Ruifang Sui Rui Chen The phenotypic variability of HK1-associated retinal dystrophy
description	Abstract Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.E851K variant, which was previously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical phenotypes. Interestingly, we found that in addition to RP, this particular variant can also cause dominant macular dystrophy and cone-rod dystrophy, which primarily affect cone photoreceptors instead of rods. Our results identified pleiotropic effects for an IRD-causing variant and provide more insights into the involvement of a hexokinase in retinal pathogenesis.
format	article
author	Zhisheng Yuan Baiyu Li Mingchu Xu Emmanuel Y. Chang Huajin Li Lizhu Yang Shijing Wu Zachry T. Soens Yumei Li Lee-Jun C. Wong Richard A. Lewis Ruifang Sui Rui Chen
author_facet	Zhisheng Yuan Baiyu Li Mingchu Xu Emmanuel Y. Chang Huajin Li Lizhu Yang Shijing Wu Zachry T. Soens Yumei Li Lee-Jun C. Wong Richard A. Lewis Ruifang Sui Rui Chen
author_sort	Zhisheng Yuan
title	The phenotypic variability of HK1-associated retinal dystrophy
title_short	The phenotypic variability of HK1-associated retinal dystrophy
title_full	The phenotypic variability of HK1-associated retinal dystrophy
title_fullStr	The phenotypic variability of HK1-associated retinal dystrophy
title_full_unstemmed	The phenotypic variability of HK1-associated retinal dystrophy
title_sort	phenotypic variability of hk1-associated retinal dystrophy
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/5fb3890276534bc0b43f0cb5ca6410ac
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The phenotypic variability of HK1-associated retinal dystrophy

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