Advances in molecular genetics of Hirschsprung disease / 国际儿科学杂志

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.