Tufting enteropathy with EpCAM mutations in two siblings

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

Research output: Contribution to journalArticle

23 Citations (Scopus)

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.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
Volume4
Issue number3
DOIs
Publication statusPublished - 2010 Sep 1
Externally publishedYes

Fingerprint

Siblings
Diarrhea
Mutation
Micrognathism
Genes
Failure to Thrive
Crowding
Juvenile Arthritis
Enterocytes
Nonsense Codon
Parenteral Nutrition
Genetic Counseling
Prenatal Diagnosis
Nose
Introns
Atrophy
Exons
Histology
Tissue Donors
Biopsy

Keywords

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

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

Cite this

Ko, J. S., Seo, J. K., Shim, J. O., Hwang, S. H., Park, H. S., & Kang, G. H. (2010). Tufting enteropathy with EpCAM mutations in two siblings. Gut and Liver, 4(3), 407-410. https://doi.org/10.5009/gnl.2010.4.3.407

Tufting enteropathy with EpCAM mutations in two siblings. / Ko, Jae Sung; Seo, Jeong Kee; Shim, Jung Ok; Hwang, Sol Ha; Park, Heae Surng; Kang, Gyeong Hoon.

In: Gut and Liver, Vol. 4, No. 3, 01.09.2010, p. 407-410.

Research output: Contribution to journalArticle

Ko, JS, Seo, JK, Shim, JO, Hwang, SH, Park, HS & Kang, GH 2010, 'Tufting enteropathy with EpCAM mutations in two siblings', Gut and Liver, vol. 4, no. 3, pp. 407-410. https://doi.org/10.5009/gnl.2010.4.3.407
Ko, Jae Sung ; Seo, Jeong Kee ; Shim, Jung Ok ; Hwang, Sol Ha ; Park, Heae Surng ; Kang, Gyeong Hoon. / Tufting enteropathy with EpCAM mutations in two siblings. In: Gut and Liver. 2010 ; Vol. 4, No. 3. pp. 407-410.
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