Tufting enteropathy with EpCAM mutations in two siblings

Jae Sung Ko, Jeong Kee Seo, Jeong Ok Shim, Sol Ha Hwang, Heae Surng Park, Gyeong Hoon Kang

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32 Scopus citations


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.316>T, Lys106X). Analysis of EpCAM will be useful for genetic counseling and prenatal diagnosis of tufting enteropathy.

Original languageEnglish
Pages (from-to)407-410
Number of pages4
JournalGut and Liver
Issue number3
StatePublished - Sep 2010


  • Diarrhea
  • Epithelial cell adhesion molecule
  • Mutation
  • Tufting enteropathy


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