Gut Liver.  2010 Sep;4(3):407-410.

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Affiliations
  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr
  • 2Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.

Abstract

Tufting enteropathy is a rare autosomal recessive disorder presenting with early-onset severe intractable diarrhea. The epithelial cell adhesion molecule gene (EpCAM) has recently been identified as the gene responsible for tufting enteropathy. Based on histology, a diagnosis of tufting enteropathy was made in two Korean siblings. They developed chronic diarrhea and failure to thrive. They had a broad nasal bridge and micrognathia. Duodenal and colonic biopsies showed villous atrophy, disorganization of surface enterocytes, and focal crowding resembling tufts. Protracted diarrhea continued and so cyclic parenteral nutrition was supplied. The sister had juvenile rheumatoid arthritis. Mutation analysis of EpCAM identified two compound heterozygous mutations in these siblings: 1) a donor splicing site mutation in intron 5 (c.491+1G>A) and 2) a novel nonsense mutation in exon 3 (c.316A>T, Lys106X). Analysis of EpCAM will be useful for genetic counseling and prenatal diagnosis of tufting enteropathy.

Keyword

Tufting enteropathy; Diarrhea; Epithelial cell adhesion molecule; Mutation

MeSH Terms

Antigens, Neoplasm
Arthritis, Juvenile Rheumatoid
Atrophy
Biopsy
Cell Adhesion Molecules
Codon, Nonsense
Colon
Crowding
Diarrhea
Enterocytes
Epithelial Cells
Exons
Failure to Thrive
Genetic Counseling
Humans
Introns
Parenteral Nutrition
Prenatal Diagnosis
Siblings
Tissue Donors
Antigens, Neoplasm
Cell Adhesion Molecules
Codon, Nonsense
Full Text Links
  • GNL
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr