TY - JOUR
T1 - Transcriptional read-through induction treatment trial in intestinal failure induced by an EpCAM nonsense mutation
AU - Sivagnanam, Mamata
AU - Mueller, James L.
AU - Szigeti, Reka
AU - Gopalakrishna, G. S.
AU - Kellermayer, Richard
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84892836601&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84892836601&partnerID=8YFLogxK
U2 - 10.1155/2012/173195
DO - 10.1155/2012/173195
M3 - Article
AN - SCOPUS:84892836601
VL - 2012
JO - Case Reports in Medicine
JF - Case Reports in Medicine
SN - 1687-9627
M1 - 173195
ER -