Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation
Figure 1
Schematic depiction of the EpCAM mutation and its consequences. (a) EpCAM mRNA (top): nonsense mutation seen in this patient located in exon 3, codon 138. Shaded boxes represent nine exons with surrounding untranslated (UTR) regions. (b) Full-length EpCAM protein (top) depicting domains: signal peptide (SP), EGF-like (EGF-I and EGF-II), cysteine poor region (CPR), transmembrane domain (TM), and cytoplasmic (CYT) domains, and truncated EpCAM (below) resulting from nonsense mutation and shift towards full length with gentamicin treatment.
