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  • Title: Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.
    Author: Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.
    Journal: J Med Genet; 2009 Dec; 46(12):862-4. PubMed ID: 19556619.
    Abstract:
    BACKGROUND: Hirschsprung disease (HSCR) is a developmental disorder caused by a defect in the neural crest neuroblast migration process. It is considered to be a paradigm of complex disorders, with many loci contributing to manifestation of the disease. Although HSCR commonly appears as a sporadic trait, approximately 20% of HSCR cases are familial, with complex patterns of inheritance. METHOD: A multiplex HSCR family with an additive model of inheritance, in which the contribution of three genes (RET, NTRK3, EDN3) leads to the HSCR phenotype is reported. RESULTS AND DISCUSSION: The findings suggest that both RET and NTRK3 mutations acting together are necessary and sufficient for the appearance of the disease, and that the EDN3 mutation is acting as a phenotype-modifier factor in the context of this family, as two different HSCR phenotypes are seen among the affected members: a short segment form, and a total colonic aganglionosis. The results therefore support the complex additive model of inheritance previously proposed for Hirschsprung disease.
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