Gene expression profile of antisense oligonucleotide-treated Neural Progenitors from controls and Schinzel-Giedion Syndrome cases

Hotspot mutations affect the degron region of SETBP1, leading to an increase in SETBP1 protein levels. SGS has a range of neurological symptoms, including severe intellectual disability, frequent seizures, hydrocephalus, distorted neuronal layering, and delayed myelination, leading to early death in children.

To investigate the gene expression change induced by a gapmer antisense oligonucleotide designed for treatment of SGS, we performed transcriptome analysis of neural progenitor cells from SGS cases and controls treated with an ASO targetting the SETBP1 gene, Inotersen ASO, vehicle-treated cells and untreated cells.