Journal
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Volume 48, Issue 4, Pages 501-503Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPG.0b013e3181846aab
Keywords
Catenins; Intercellular junctions; Plakins; Syndromic diarrhoea; Tricho-hepato-enteric syndrome
Funding
- Association Pour le Developpement des Recherches Biologiques et Medicales au Centre Hospitalier Regional de Marseille
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Syndromic diarrhoea (SD) is a rare disease associating intractable diarrhoea and hair abnormalities. In an attempt to identify the gene causative for SD, we studied several functional candidate genes, based on their implication in overlapping phenotypes in mice (EGFR) or in humans (HRAS, JUP, DSP EPPK1, PLEC1, and CTNNB1) in 8 patients affected by SD. Except for EGFR and HRAS, all selected genes encode for cell adhesion proteins. Using direct sequencing or linkage analysis, we excluded all of the candidate genes as the disease-causing gene in our group of patients; however, the hypothesis of intercellular junctions defect in SD remains seductive. JPGN 48:501-503, 2009.
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