Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa

IntroductionThe diversity of phenotypes, ranging from inherited retinal dystrophies (such as Stargardt disease 1, cone–rod dystrophy 3, and retinitis pigmentosa 19) to late-onset age-related macular degeneration 2, has been attributed to loss-of-function variants in the ABCA4 gene. In this study, we...

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Main Authors: Qi Luo, Juan Huang, Lu Shi, Guanghong Zhang, Linping Xue, Kehu Wu, Xiaoyu Li, Lei Yang, Dujun Li, Liangwei Mao, Jihong Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
ABCA4 gene
inherited retinal dystrophy
whole-exome sequencing
minigene assay
Stargardt disease
retinitis pigmentosa
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1516872/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1516872/full

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