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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.

Journal of Pediatric Gastroenterology and Nutrition: January 2014 - Volume 58 - Issue 1 - p 18–21
doi: 10.1097/MPG.0000000000000106
Original Articles: Gastroenterology

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.

*Division of Cell Biology, Biocenter Innsbruck, Medical University Innsbruck, Austria

Department of Paediatric Laboratory Medicine, Division of Pathology

Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Hospital for Sick Children, University of Toronto

§Program in Cell Biology, Hospital for Sick Children, Toronto, Canada.

Address correspondence and reprint requests to Aleixo M. Muise, MD, PhD, Department for Gastroenterology, Hepatology, and Nutrition, Hospital for Sick Children, 555 University Avenue, Toronto M5G 1X8, Canada (e-mail:

Received 13 May, 2013

Accepted 16 August, 2013

The authors report no conflicts of interests.

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