title: Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.
abstract: 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.
authors.affiliation: Service de Pédiatrie Multidisciplinaire, Hôpital d'enfants de la Timone, Marseille, France.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Fabre
authors.forename: Bertrand
authors.initials: B
authors.lastname: Roquelaure
authors.forename: Caroline
authors.initials: C
authors.lastname: Lacoste
authors.forename: Nicolas
authors.initials: N
authors.lastname: André
authors.forename: Jacques
authors.initials: J
authors.lastname: Sarles
authors.forename: Anne
authors.initials: A
authors.lastname: Breton
authors.forename: Christine
authors.initials: C
authors.lastname: Martinez-Vinson
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Cezard
authors.forename: Virginie
authors.initials: V
authors.lastname: Colomb
authors.forename: Olivier
authors.initials: O
authors.lastname: Goulet
authors.forename: Nicolas
authors.initials: N
authors.lastname: Levy
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens