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

作者：Thoeni Cornelia; Amir Achiya; Guo Conghui; Zhang S; Avitzur Yaron; Heng Y M; Cutz Ernest; Muise Aleixo M^*

来源：Journal of Pediatric Gastroenterology and Nutrition, 2014, 58(1): 18-21.

DOI：10.1097/MPG.0000000000000106

• congenital tufting enteropathy
• EpCAM mutations
• intractable diarrhea

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.

• 出版日期2014-1