The phenotypic variability of HK1-associated retinal dystrophy.
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ABSTRACT:
SUBMITTER: Yuan Z
PROVIDER: S-EPMC5539152 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Publications
The phenotypic variability of HK1-associated retinal dystrophy.
Yuan Zhisheng Z Li Baiyu B Xu Mingchu M Chang Emmanuel Y EY Li Huajin H Yang Lizhu L Wu Shijing S Soens Zachry T ZT Li Yumei Y Wong Lee-Jun C LC Lewis Richard A RA Sui Ruifang R Chen Rui R
Scientific reports 20170801 1
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 pigment ...[more]
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