Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoea.

Full 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.

Author information

Author/s: Fabre, Alexandre (A); Roquelaure, Bertrand (B); Lacoste, Caroline (C); André, Nicolas (N); Sarles, Jacques (J); Breton, Anne (A); Martinez-Vinson, Christine (C); Cezard, Jean-Pierre (JP); Colomb, Virginie (V); Goulet, Olivier (O); Levy, Nicolas (N); Badens, Catherine (C);

Affiliation: Service de Pédiatrie Multidisciplinaire, Hôpital d'enfants de la Timone, Marseille, France.

Journal and publication information

Publication Type: Journal Article

Journal: Journal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr), published in United States. (Language: eng)

Reference: 2009-Apr; vol 48 (issue 4) : pp 501-3

Dates: Created 2009/03/26; Completed 2009/07/28;

PMID: 19322062, status: MEDLINE (last retrieval date: 8/20/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Genotype
Hair - abnormalities
Humans
Mice
Phenotype
Plectin - genetics
Proto-Oncogene Proteins p21(ras) - genetics
Rare Diseases - genetics
Syndrome
beta Catenin - genetics

Associated Chemicals: Autoantigens (0) ; CTNNB1 protein, human (0) ; DSP protein, human (0) ; Desmoplakins (0) ; JUP protein, human (0) ; PLEC1 protein, human (0) ; Plectin (0) ; beta Catenin (0) ; epiplakin (0) ; HRAS protein, human (EC 3.6.5.2) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)

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