Figure 3.

SMG8 and SMG9 Biallelic Variants Are Associated with Transcriptional Dysregulation Suggestive of Impaired NMD

(A and B) DGE analysis of individuals with SMG8 and SMG9 biallelic variants (SMG8/SMG9⁻) versus individuals who lack such variants (SMG⁺) by using fibroblasts (A) and LCLs (B).

(C) Summary of the overlap of dysregulated genes between fibroblasts and LCLs in comparison to the list of previously published dysregulated genes in siUPF1-treated hESCs as reported by Lou et al., 2016.²¹