Advances in molecular genetics of Hirschsprung disease
10.3760/cma.j.issn.1673-4408.2015.04.001
- VernacularTitle:先天性巨结肠症分子基因学研究进展
- Author:
Longzhi LI
;
Weijue XU
- Publication Type:Journal Article
- Keywords:
Hirschsprung disease;
Sustability gene;
Etiology;
Genetics
- From:
International Journal of Pediatrics
2015;(4):363-366
- CountryChina
- Language:Chinese
-
Abstract:
Hirschsprung′s disease( HD) ,caused by the dysplasia of enteric neural crest cells during em-bryonic stage,is a multifactorial disorder with several genes or gene signaling pathways involved in its pathogen-esis. To date,at least 11 genes have been found to be associated with the pathogenesis of HD. The abnormal expression or interaction of these genes may lead to the displasia of neural crest cells,which may result in HD. Current knowledge of the molecular genetics underlying HD based on human and animal studies are reviewed.
