Journal
HUMAN MOLECULAR GENETICS
Volume 22, Issue 13, Pages 2566-2571Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddt105
Keywords
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Funding
- Groningen University Graduate School of Medical Sciences
- Marie Curie International Reintegration Grant within the 7th European Community Framework Program
- J.K. De Cock Stichting
- Netherlands Organisation for Scientific Research (NWO) [40-00506-98-9021, 175-010-2009-023]
- National Institute of Health [K08 DK078672-01A1]
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Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not clear. Here, we report that most mutations, including a novel intronic variant, will result in lack of EpCAMs transmembrane domain, whereas two mutations allow transmembrane localization. We find that these mutants are not routed to the plasma membrane, and that truncated mutants are secreted or degraded. Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE.
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