Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as Functional Candidate Genes in 7 Families With Syndromic Diarrhoea

被引：3

作者：

Fabre, Alexandre ^{[1
,2
]}

Roquelaure, Bertrand ^{[2
]}

Lacoste, Caroline ^{[1
]}

Andre, Nicolas ^{[3
,4
]}

Sarles, Jacques ^{[2
]}

Breton, Anne ^{[5
]}

Martinez-Vinson, Christine ^{[6
]}

Cezard, Jean-Pierre ^{[6
]}

Colomb, Virginie ^{[7
]}

Goulet, Olivier ^{[7
]}

Levy, Nicolas ^{[1
,8
]}

Badens, Catherine ^{[1
,8
]}

机构：

[1] Hop Enfants La Timone, Genet Mol Lab, F-13385 Marseille 5, France

[2] Hop Enfants La Timone, Serv Pediat Multidisciplinaire, F-13385 Marseille 5, France

[3] Hop Enfants La Timone, Serv Pediat Oncol, F-13385 Marseille 5, France

[4] Univ Aix Marseille, Unite Inserm, UMR911, CRO2, Marseille, France

[5] Hop Enfant Toulouse, Serv Hepatol & Malad Metab, Toulouse, France

[6] Hop Robert Debre, Serv Gastroenterol, F-75019 Paris, France

[7] Hop Necker Enfants Malad, Serv Gastroenterol, Paris, France

[8] Unite INSERM, U910, Marseille, France

来源：

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION | 2009年 / 48卷 / 04期

关键词：

Catenins; Intercellular junctions; Plakins; Syndromic diarrhoea; Tricho-hepato-enteric syndrome; RIGHT-VENTRICULAR CARDIOMYOPATHY; HEPATO-ENTERIC SYNDROME; INTRACTABLE DIARRHEA; NAXOS-DISEASE; WOOLLY HAIR; KERATODERMA; EPIPLAKIN; MUTATIONS; ANOMALIES;

D O I：

10.1097/MPG.0b013e3181846aab

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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.

引用

页码：501 / 503

页数：3

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