Deletion of RBMX RGG/RG Motif in Shashi-XLID Syndrome Leads to Aberrant p53 Activation and Neuronal Differentiation Defects

Scientists investigated the contribution of the X-linked intellectual disability (XLID)-associated RBMX in neuronal differentiation.Transcriptomic analysis of isogenic Shashi-XLID human iPSCs generated using CRISPR-Cas9 revealed a dysregulation of MDM4 splicing and aberrant p53 upregulation.