Skip Navigation LinksHome > January 2014 - Volume 58 - Issue 1 > A Novel Nonsense Mutation in the EpCAM Gene in a Patient Wit...
Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0000000000000106
Original Articles: Gastroenterology

A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy

Thoeni, Cornelia*; Amir, Achiya; Guo, Conghui§; Zhang, S.§; Avitzur, Yaron; Heng, Y.M.; Cutz, Ernest; Muise, Aleixo M.

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Objectives: Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as a result of a dysfunctional epithelial cell barrier, which is mainly caused by mutations in the EpCAM gene and expression of a nonfunctional epithelial cell adhesion molecule in the intestine. We report here a novel nonsense mutation in a patient suspected of having TE, resulting in a complete absence of EpCAM in duodenal enterocytes.

Methods: A patient presenting with congenital diarrhea and suspected of having TE was screened for EpCAM mutations, and duodenal biopsies were stained for EpCAM using immunohistochemistry analysis.

Results: We identified a novel homozygous nonsense mutation in the EpCAM gene in a patient suspected of having TE, causing a complete loss of EpCAM expression in duodenal enterocytes.

Conclusions: With screening analysis for EpCAM mutations and immunohistochemistry for EpCAM expression in duodenal enterocytes, we found a novel homozygous mutation in a patient with classical protracted diarrhea in infancy finally diagnosed as TE, which results in a complete absence of EpCAM and in dysfunctional barrier formation in duodenal enterocytes.

© 2014 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,


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