title: New mutations ofEpCAMgene for tufting enteropathy in Saudi Arabia.
abstract: OBJECTIVE
  Tufting enteropathy (TE) is a rare cause of congenital intractable diarrhea in children. It often results in an irreversible intestinal failure and total parenteral nutrition (TPN) dependency; eventually, intestinal transplantation may be necessary. Data on TE from the Middle East are scarce; therefore, our aim of conducting this study was to clarify the clinical, histopathologic, and molecular features of TE in Saudi children.
  
  
  METHODS
  This was a retrospective chart review of four children with TE who presented between January 2011 and December 2013 to King Fahad Specialist Hospital-Dammam (KFSH-D). The diagnosis of TE was suspected based on characteristic histopathologic intestinal biopsy findings and confirmed by EpCAM gene testing.
  
  
  RESULTS
  Molecular testing identified two novel mutations in the EpCAM gene in our patients. These mutations were associated with severe phenotype of the disease characterized by very early onset (median of 2 weeks of life), TPN dependency, and death during early childhood. Two patients died due to central line-related complications. Two patients were referred for intestinal transplantation due to loss of intravenous access in one and progressive liver disease in the other.
  
  
  CONCLUSIONS
  Mutations in EpCAM gene in Saudi children are characterized by severe phenotype and poor outcome.
authors.affiliation: Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
authors.forename: Shaden
authors.initials: S
authors.lastname: AlMahamed
authors.affiliation: Department of Pediatrics, Division of Pediatric Gastroenterology and Hepatology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
authors.forename: Abdelhai
authors.initials: A
authors.lastname: Hammo
mesh_terms: D017668:Age of Onset; D003968:Diarrhea, Infantile / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D000071858:Epithelial Cell Adhesion Molecule / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008297:Male; D009154:Mutation; D011379:Prognosis; D012189:Retrospective Studies; D012529:Saudi Arabia
chemical_list: C499379:EPCAM protein, human; D000071858:Epithelial Cell Adhesion Molecule