Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905046 | European Journal of Medical Genetics | 2011 | 4 Pages |
Abstract
Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. Studying seven multiplex consanguineous families from the Arabic peninsula (Kuwait and Qatar) we found that most patients were homozygote for a c.498insC mutation in exon 5. The others carried a novel mutation IVS4-2A â G. Both mutations were predicted to truncate the C-terminal domain necessary to anchorage of EPCAM at the intercellular membrane. Consistently, immunohistochemistry of intestinal biopsies failed to detect the EPCAM protein at the intercellular membrane level. The c.498insC mutation was found on the background of a minimal common haplotype of 473 kb suggesting a very old founder effect (5000-6000 yrs).
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Authors
Julie Salomon, Yolanda Espinosa-Parrilla, Olivier Goulet, Wafa'a Al-Qabandi, Philippe Guigue, Danielle Canioni, Julie Bruneau, Fatema Alzahrani, Saleh Almuhsen, Nadine Cerf-Bensussan, Marc Jeanpierre, Nicole Brousse, Stanislas Lyonnet, Arnold Munnich,