OSBPL2 Compound Heterozygous Variants Cause Dyschromatosis, Ichthyosis, Deafness and Atopic Disease Syndrome
Date: 06/06/2024
Yumeng Wang a 1, Anqi Zhao b 1, Naihui Zhou c 1, Xiaoxiao Wang a 1, Chaolan Pan a, Shengru Zhou d, Haisheng Huang e, Yijun Yang a, Jianqiu Yang d, Yifan Yang d, Jingwen Zhang d, Fuying Chen b, Qiaoyu Cao b, Jingjun Zhao a, Si Zhang f, Ming Li b, Min Li d
Highlights
•OSBPL2 compound heterozygous variants lead to Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease syndrome.
•OSBPL2 dysfunction induces hyperproliferation and abnormal cornification of the epidermis.
•OSBPL2 downregulates PLCB3 ubiquitylation and enhances its stability, through which regulating epidermal development.
Read more here. https://www.sciencedirect.com/science/article/pii/S0925443924001960?via%3Dihub
