title: A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.
abstract: OBJECTIVE
  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.
authors.affiliation: *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.
authors.forename: Cornelia
authors.initials: C
authors.lastname: Thoeni
authors.forename: Achiya
authors.initials: A
authors.lastname: Amir
authors.forename: Conghui
authors.initials: C
authors.lastname: Guo
authors.forename: S
authors.initials: S
authors.lastname: Zhang
authors.forename: Yaron
authors.initials: Y
authors.lastname: Avitzur
authors.forename: Y M
authors.initials: YM
authors.lastname: Heng
authors.forename: Ernest
authors.initials: E
authors.lastname: Cutz
authors.forename: Aleixo M
authors.initials: AM
authors.lastname: Muise
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics* / Q000378:metabolism; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D018389:Codon, Nonsense; D003968:Diarrhea, Infantile / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004386:Duodenum / Q000378:metabolism / Q000473:pathology*; D000071858:Epithelial Cell Adhesion Molecule; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007410:Intestinal Diseases / Q000151:congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology*; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D018389:Codon, Nonsense; C499379:EPCAM protein, human; D000071858:Epithelial Cell Adhesion Molecule