@article{28821ac7de2047e6b3de5fb97e4233f3,
title = "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 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.",
author = "Zhisheng Yuan and Baiyu Li and Mingchu Xu and Chang, {Emmanuel Y.} and Huajin Li and Lizhu Yang and Shijing Wu and Soens, {Zachry T.} and Yumei Li and Wong, {Lee Jun C.} and Lewis, {Richard A.} and Ruifang Sui and Rui Chen",
note = "Funding Information: We would like to thank the probands and their family members for participating in this study. We thank Andrew Smith for editing the manuscript. This work is supported by grants to R.S. from the Ministry of Science and Technology of the People's Republic of China (Grant No.: 2010DFB33430), the Foundation Fighting Blindness USA (CD-CL-0214-0631-PUMCH), the National Natural Science Foundation of China (81470669), Beijing Natural Science Foundation (7152116) and CAMS Innovation Fund for Medical Sciences (CIFMS 2016-12M-1- 002). This work is also supported by the National Eye Institute [R01EY022356, R01EY018571, vision core grant P30EY002520], the Retina Research Foundation, the Foundation Fighting Blindness [grant number BR-GE- 0613-0618-BCM] to R.C. Publisher Copyright: {\textcopyright} 2017 The Author(s).",
year = "2017",
month = dec,
day = "1",
doi = "10.1038/s41598-017-07629-3",
language = "English (US)",
volume = "7",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "The Author(s) SN -",
number = "1",
}