The phenotypic variability of HK1-associated retinal dystrophy.

TitleThe phenotypic variability of HK1-associated retinal dystrophy.
Publication TypeJournal Article
Year of Publication2017
AuthorsYuan, Z, Li, B, Xu, M, Chang, EY, Li, H, Yang, L, Wu, S, Soens, ZT, Li, Y, Wong, L-JC, Lewis, RA, Sui, R, Chen, R
JournalSci Rep
Date Published2017 Aug 01
KeywordsBiological Variation, Population, Hexokinase, Mutation, Missense, Retinal Dystrophies

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.

Alternate JournalSci Rep
PubMed ID28765615
PubMed Central IDPMC5539152
Grant ListP30 EY002520 / EY / NEI NIH HHS / United States
R01 EY018571 / EY / NEI NIH HHS / United States
R01 EY022356 / EY / NEI NIH HHS / United States
T32 GM008307 / GM / NIGMS NIH HHS / United States

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