Article
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Human genetics - 1 Mar 2014
Salomon Julie, Goulet Olivier, Canioni Danielle, Brousse Nicole, Lemale Julie, Tounian Patrick, Coulomb Aurore, Marinier Evelyne, Hugot Jean-Pierre, Ruemmele Frank, Dufier Jean-Louis, Roche Olivier, Bodemer Christine, Colomb Virginie, Talbotec Cécile, Lacaille Florence, Campeotto Florence, Cerf-Bensussan Nadine, Janecke Andreas R, Mueller Thomas, Koletzko Sibylle, Bonnefont Jean-Paul, Lyonnet Stanislas, Munnich Arnold, Poirier Françoise, Smahi Asma
Abstract excerpt
Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion criteria were early onset diarrhea and intestinal insufficiency with the typical histological CTE...
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