Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

Gastroenterology

Volumn 135, Issue 2, 2008, Pages 429-437

  Sivagnanam, Mamata ^a,b   Mueller, James L ^a   Lee, Hane ^c   Chen, Zugen ^c   Nelson, Stanley F ^c   Turner, Dan ^d   Zlotkin, Stanley H ^d   Pencharz, Paul B ^d   Ngan, Bo Yee ^d   Libiger, Ondrej ^e   Schork, Nicholas J ^e   Lavine, Joel E ^a,b   Taylor, Sharon ^a,b   Newbury, Robert O ^b   Kolodner, Richard D ^a   Hoffman, Hal M ^a,b,f  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e SCRIPPS HEALTH   (United States)

^f UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; EPITHELIAL CELL ADHESION MOLECULE;

ALTERNATIVE RNA SPLICING; ARTICLE; CHILD; CHROMOSOME 2P; CHROMOSOME 2P21; CLINICAL ARTICLE; CONGENITAL TUFTING ENTEROPATHY; CONTROLLED STUDY; DNA SEQUENCE; DUODENUM; ENTEROPATHY; EXON; FAMILY; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINE; INTROSPECTION; MALE; MEDICAL INFORMATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

EID: 48749091347     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2008.05.036     Document Type: Article

References (30)

1. Sherman P.M., Mitchell D.J., and Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 38 (2004) 16-26
2. Gambarara M., Diamanti A., Ferretti F., et al. Intractable diarrhea of infancy with congenital intestinal mucosa abnormalities: outcome of four cases. Transplant Proc 35 (2003) 3052-3053
3. Jeppesen P.B., Langholz E., and Mortensen P.B. Quality of life in patients receiving home parenteral nutrition. Gut 44 (1999) 844-852
4. Paramesh A.S., Fishbein T., Tschernia A., et al. Isolated small bowel transplantation for tufting enteropathy. J Pediatr Gastroenterol Nutr 36 (2003) 138-140
5. Kato T. Intestinal and multivisceral transplantation. World J Surg 26 (2002) 226-237
6. Reifen R.M., Cutz E., Griffiths A.M., et al. Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr 18 (1994) 379-385
7. Cameron D.J., and Barnes G.L. Successful pregnancy outcome in tufting enteropathy. J Pediatr Gastroenterol Nutr 36 (2003) 158
8. Beck N.S., Kang I.S., and Suh Y.L. Protracted diarrhea: results of the five-year survey in a tertiary hospital in Korea. J Korean Med Sci 16 (2001) 736-741
9. Goulet O.J., Brousse N., Canioni D., et al. Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr 26 (1998) 151-161
10. Goulet O., Salomon J., Ruemele F., et al. Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis (2007) 20-26
11. Patey N., Scoazec J.Y., Cuenod-Jabri B., et al. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology 113 (1997) 833-843
12. Teller I.C., and Beaulieu J.F. Interactions between laminin and epithelial cells in intestinal health and disease. Expert Rev Mol Med 2001 (2001) 1-18
13. Ng A.Y., Waring P., Ristevski S., et al. Inactivation of the transcription factor Elf3 in mice results in dysmorphogenesis and altered differentiation of intestinal epithelium. Gastroenterology 122 (2002) 1455-1466
14. Cha Y., Lee H., Jen J.C., et al. Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. J Neurol Neurosurg Psychiatry 78 (2007) 1273-1275
15. Kruglyak L., Daly M.J., and Lander E.S. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56 (1995) 519-527
16. UCSC Genome Bioinformatics. http://www.genome.ucsc.edu Accessed January 27, 2006
17. Lee H., Jen J.C., Wang H., et al. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet 15 (2006) 251-258
18. Carlson C.S., Eberle M.A., Kruglyak L., et al. Mapping complex disease loci in whole-genome association studies. Nature 429 (2004) 446-452
19. Easton D.F., Pooley K.A., Dunning A.M., et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447 (2007) 1087-1093
20. Boerglum A.D., Balslev T., Haagerup A., et al. A new locus for Seckel syndrome on chromosome 18 p 11. 31-q 11. 2. Eur J Hum Genet 9 (2001) 753-757
21. Litvinov S.V., Velders M.P., Bakker H.A., et al. Ep-CAM: a human epithelial antigen is a homophilic cell-cell adhesion molecule. J Cell Biol 125 (1994) 437-446
22. Balzar M., Winter M.J., de Boer C.J., et al. The biology of the 17-1A antigen (Ep-CAM). J Mol Med 77 (1999) 699-712
23. Ladwein M., Pape U.F., Schmidt D.S., et al. The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7. Exp Cell Res 309 (2005) 345-357
24. Balzar M., Briaire-de Bruijn I.H., Rees-Bakker H.A., et al. Epidermal growth factor-like repeats mediate lateral and reciprocal interactions of Ep-CAM molecules in homophilic adhesions. Mol Cell Biol 21 (2001) 2570-2580
25. Takeichi M. Morphogenetic roles of classic cadherins. Curr Opin Cell Biol 7 (1995) 619-627
26. Adkins J.C., and Spencer C.M. Edrecolomab (monoclonal antibody 17-1A). Drugs 56 (1998) 619-626
27. Toole B.P., Goldberg R.L., Chi-Rosso G., et al. 1984. In: Trelstad R.C. (Ed). The Role of Extracellular Matrix in Development (1984), Alan R Liss, New York
28. Jones B.A., and Gores G.J. Physiology and pathophysiology of apoptosis in epithelial cells of the liver, pancreas, and intestine. Am J Physiol 273 (1997) 1174-1188
29. Damiano J.S., Cress A.E., Hazlehurst L.A., et al. Cell adhesion mediated drug resistance (CAM-DR): role of integrins and resistance to apoptosis in human myeloma cell lines. Blood 93 (1999) 1658-1667
30. Bird L.M., Sivagnanam M., Taylor S., et al. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol 16 (2007) 211-221