Yumeng Wang, Anqi Zhao, Naihui Zhou, Xiaoxiao Wang, Chaolan Pan, Shengru Zhou, Haisheng Huang, Yijun Yang, Jianqiu Yang, Yifan Yang, Jingwen Zhang, Fuying Chen, Qiaoyu Cao, Jingjun Zhao, Si Zhang, Ming Li, Min Li
PURPOSE: In this study, we identified and diagnosed a novel inherited condition called Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. We present a series of studies to clarify the pathogenic variants and specific mechanism. METHODS: Exome sequencing and Sanger sequencing was conducted in affected and unaffected family members. A variety of human and cell studies were performed to explore the pathogenic process of keratosis. RESULTS: Our finding indicated that DIDA syndrome was caused by compound heterozygous variants in the oxysterol-binding protein-related protein 2 (OSBPL2) gene...
May 1, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease