Fig. 5

Multiple genes associated with intellectual disability, autism, or cilia biogenesis/function are dysregulated in individuals with bi-allelic PRMT9 pathogenic variants (A) Prior to RNA extraction and sequencing, control cells (n = 3) and individuals’ fibroblasts (A.II-1, C.II-1, and C.II-2) were cultured in normal conditions (+FCS) and ciliated conditions (−FCS). To induce primary cilium formation, the cells were deprived of serum by growth for 48 h in DMEM with 1% penicillin-streptomycin. Considering only genes with a log2 fold change of <−1/>1 and an adjusted p value <0.05, 62 DEGs were identified in all three individuals in normal cell-culture conditions (+FCS), and 241 DEGs were found in ciliated conditions (−SVF), highlighting a potential role of PRMT9 during ciliogenesis. (B) Gene category description (e.g., intellectual disability, autism, or cilia biogenesis/function) of the 14 selected out of 62 dysregulated genes further validated. (C) Real-time qPCR analyses of the expression of upregulated and downregulated genes in the three individuals’ fibroblast culture in normal conditions (+FCS) and one control. (D) Real-time qPCR analyses of the expression of upregulated and downregulated genes in the three individuals’ fibroblast culture in ciliated conditions (−FCS) and one control. Error bars represent standard deviation of biological triplicates. Statistical significance was determined using a Student’s t test (∗p < 0.05, ∗∗p < 0.01, ∗∗∗p < 0.001, ∗∗∗∗p < 0.0001).