RNA-seq analysis for wild-type fibroblasts and patient fibroblasts bearing pathogenic EPG5 mutations

Using an adjusted p-value threshold of < 0.05, we identified 5,303 differentially expressed transcripts in patient fibroblasts harboring a homozygous p.Gln336Arg missense mutation, of which 2,651 were upregulated and 2,652 were downregulated. In patient fibroblasts carrying compound heterozygous truncating mutations (p.Arg299*/p.Pro1827Ala), we identified 6,317 differentially expressed transcripts, including 3,239 upregulated and 3,078 downregulated transcripts, compared with control 1 fibroblasts.