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Tufting Enteropathy with EpCAM Mutations in Two Siblings

Cited 19 time in Web of Science Cited 24 time in Scopus
Authors
Ko, Jae Sung; Seo, Jeong Kee; Shim, Jeong Ok; Hwang, Sol Ha; Kang, Gyeong Hoon; Park, Heae Surng
Issue Date
2010-09-30
Publisher
EDITORIAL OFFICE GUT & LIVER
Citation
GUT AND LIVER; Vol.4 3; 407-410
Keywords
Tufting enteropathyMutationDiarrheaEpithelial cell adhesion molecule
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. (Gut Liver 2010;4:407-410)
ISSN
1976-2283
Language
English
URI
http://hdl.handle.net/10371/76721
DOI
https://doi.org/10.5009/gnl.2010.4.3.407
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College of Medicine/School of Medicine (의과대학/대학원)Pathology (병리학전공)Journal Papers (저널논문_병리학전공)
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