Fig. 3

Transcriptomic analysis revealed altered gene expression in FS neurons. (A and B) Volcano plots depicting differentially expressed genes (DEGs) between neurons derived from FS patients and HC at the early (A) and late (B) stages of differentiation. (C) Gene Ontology (GO) enrichment analysis of down-regulated DEGs in FS patient-derived neurons compared to HC at both stages of differentiation. (D and E) Normalized enrichment score (NES) versus significance plot for the early (D) and late (E) stages of differentiation. The red squares represent the FDR q-value, while the black dots denote the nominal p-value for each gene set. Gene sets are considered significant if the FDR < 25% (highlighted in the yellow box). (F–I) Gene set enrichment analysis (GSEA) of GO categories highlights the negative enrichment of GABAA receptor complex and activity, GABAergic synapse, and GABA signaling pathway in neurons derived from FS patients.