Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation
Joint Authors
Szigeti, Reka
Kellermayer, Richard
Gopalakrishna, G. S.
Mueller, James L.
Sivagnanam, Mamata
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-09-09
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Sivagnanam, Mamata& Mueller, James L.& Szigeti, Reka& Gopalakrishna, G. S.& Kellermayer, Richard. 2012. Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation. Case Reports in Medicine،Vol. 2012, no. 2012, pp.1-3.
https://search.emarefa.net/detail/BIM-451727
Modern Language Association (MLA)
Sivagnanam, Mamata…[et al.]. Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation. Case Reports in Medicine No. 2012 (2012), pp.1-3.
https://search.emarefa.net/detail/BIM-451727
American Medical Association (AMA)
Sivagnanam, Mamata& Mueller, James L.& Szigeti, Reka& Gopalakrishna, G. S.& Kellermayer, Richard. Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation. Case Reports in Medicine. 2012. Vol. 2012, no. 2012, pp.1-3.
https://search.emarefa.net/detail/BIM-451727
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-451727