The developmental genetics of Hirschsprung's disease

Bergeron, K-F; Silversides, DW et Pilon, N (2013). « The developmental genetics of Hirschsprung's disease ». Clinical Genetics, 83(1), pp. 15-22.

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Hirschsprung’s disease, also known as aganglionic megacolon, derives from a congenital malformation of the enteric nervous system (ENS). It displays an incidence of 1 in 5000 live births with a 4:1 male to female sex ratio. Clinical signs include severe constipation and distended bowel due to a non-motile colon. If left untreated, aganglionic megacolon is lethal. This severe congenital condition is caused by the absence of colonic neural ganglia and thus lack of intrinsic innervation of the colon due in turn to improper colonization of the developing intestines by ENS progenitor cells. These progenitor cells are derived from a transient stem cell population called neural crest cells (NCC). The genetics of Hirschsprung’s disease is complex and can involve mutations in multiple genes. However, it is estimated that mutations in known genes account for less than half of the cases of Hirschsprung’s disease observed clinically. The male sex bias is currently unexplained. The objective of this review is to provide an overview of the pathophysiology and genetics of Hirschsprung’s disease, within the context of our current knowledge of NCC development, sex chromosome genetics and laboratory models.

Type: Article de revue scientifique
Mots-clés ou Sujets: Intestinal Motility, Enteric Nervous System, Hirschsprung’s disease, Aganglionic Megacolon, Neural Crest Cells, Neurocristopathy
Unité d'appartenance: Centres institutionnels > Centre de recherches biomédicales (BIOMED)
Faculté des sciences > Département des sciences biologiques
Déposé par: Jean-Jacques Rondeau
Date de dépôt: 18 janv. 2019 11:14
Dernière modification: 18 janv. 2019 11:14
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