Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.

Rulian ZhaoShiyuan WangPeiquan ZhaoErkuan DaiXiang ZhangLi PengYunqi HeMu Yang Shujin LiZhenglin Yang

Published in: Clinical & experimental ophthalmology (2022)

Our study showed that four inherited LRP5 variants can cause autosomal dominant FEVR via down regulation of Norrin/β-catenin signalling and expanded the spectrum of FEVR-associated LRP5 variants.

Keyphrases

copy number
genome wide
epithelial mesenchymal transition
low density lipoprotein
cell proliferation
gene expression
age related macular degeneration