Transcriptional read-through induction treatment trial in intestinal failure induced by an EpCAM nonsense mutation

Mamata Sivagnanam, James L. Mueller, Reka Szigeti, G. S. Gopalakrishna, Richard Kellermayer

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Congenital tufting enteropathy (CTE) is a rare autosomal recessive diarrheal disorder where epithelial tufts can be present from the duodenum to the large intestine. CTE has been linked to mutations in the epithelial cell adhesion molecule gene (EpCAM) Sivagnanam et al. (2008). We recently reported the first case with a nonsense mutation in EpCAM Sivagnanam et al. (2010). Here, we explored the clinical and molecular effects of enterally administered gentamicin in this CTE patient. Altogether, our findings indicate that the therapy employed was insufficient to produce notable read-through induction of the EpCAM premature termination codon. This report highlights the utility of genetic testing not only in respect of diagnostics, prognostics, and family planning, but potential mutation-specific therapeutic considerations as well.

Original languageEnglish (US)
Article number173195
JournalCase Reports in Medicine
Volume2012
DOIs
StatePublished - 2012

ASJC Scopus subject areas

  • Medicine(all)

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