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

Journal of Pediatric Gastroenterology and Nutrition

Volumn 48, Issue 4, 2009, Pages 501-503

  Fabre, Alexandre ^a   Roquelaure, Bertrand ^a   Lacoste, Caroline ^a   André, Nicolas ^a,b   Sarles, Jacques ^a   Breton, Anne ^c   Martinez Vinson, Christine ^d   Cezard, Jean Pierre ^d   Colomb, Virginie ^e   Goulet, Olivier ^e   Levy, Nicolas ^f   Badens, Catherine ^a,f  

^a TIMONE HOSPITAL   (France)

^b University of the Mediterranean Aix Marseille II   (France)

^c Department of Epidemiology   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f INSERM   (France)

Author keywords

Catenins; Intercellular junctions; Plakins; Syndromic diarrhoea; Tricho hepato enteric syndrome

Indexed keywords

ARTICLE; CELL ADHESION; CLINICAL ARTICLE; CTNNB1 GENE; DIARRHEA; DSP GENE; EGFR GENE; EPPK1 GENE; FAMILY; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; HRAS GENE; HUMAN; JUP GENE; LINKAGE ANALYSIS; MOUSE; NONHUMAN; PARENTERAL NUTRITION; PHENOTYPE; PLEC1 GENE; PRIORITY JOURNAL; SYNDROMIC DIARRHEA;

MUS;

EID: 67650928181     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181846aab     Document Type: Article

References (14)

1. Girault D, Goulet O, Le Deist F, et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 1994;125:36-42.
2. Goulet O, Vinson C, Roquelaure B, et al. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis 2008;3:6.
3. Verloes A, Lombet J, Lambert Y, et al. Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet 1997;68:391-5.
4. Fabre A, Andre N, Breton A, et al. Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder. Am J Med Genet A 2007;143:584-8.
5. Miettinen PJ, Berger JE, Meneses J, et al. Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor. Nature 1995;376:337-41.
6. Aoki Y, Niihori T, Kawame H, et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005;37:1038-40.
7. Sonneberg A, Liem RK. Plakins in development and disease. Exp Cell Res 2007;313:2189-203.
8. McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardi-omyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119-24.
9. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair, and keratoderma. Hum Mol Genet 2000;9:2761-6.
10. Takeo N, Wang W, Matsuo N, et al. Structure and heterogeneity of the human gene for epiplakin (EPPK1). J Invest Dermatol 2003;121:1224-6.
11. Fujiwara S, Takeo N, Otani Y, et al. Epiplakin, a novel member of the plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization. J Biol Chem 2001;276:13340-7.
12. Bennett CL, Christie J, Ramsdell F, et al. The immune dysregula-tion, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27:20-1.
13. Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogen-esis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004;13:185-94.
14. Turner JR. Molecular basis of epithelial barrier regulation. Am J Pathol 2006;169:1901-10.