RAD21-R450C variant is associated with corneal stroma disorganization

In this study, a RAD21 variant, R450C, is found associated with a peripheral sclerocornea pedigree. Omics analyses including RNAseq and Hi-C were applied to identify the expression and chromosome conformation of cell adhesion genes were affected by this variant. Overall design: Lymphoblastoid cells were isolated from peripheral sclerocornea patients. RNAseq and Hi-C were performed on these cells to profiling these cells.