Tufting Enteropathy with EpCAM Mutations in Two Siblings.
- Author:
Jae Sung KO
1
;
Jeong Kee SEO
;
Jeong Ok SHIM
;
Sol Ha HWANG
;
Heae Surng PARK
;
Gyeong Hoon KANG
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Tufting enteropathy;
Diarrhea;
Epithelial cell adhesion molecule;
Mutation
- MeSH:
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
- From:Gut and Liver
2010;4(3):407-410
- CountryRepublic of Korea
- Language:English
-
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.
