Most common genetic mutation associated with Hirschsprung disease is:
Genetic studies have identified mutations in different genes contributing to the development of Hirschsprung disease. The more common mutations are RETgene (7-35% of sporadic cases), EDNRB gene (7%) END3 gene (5%) Ref: Seminars in Pediatric Surgery (2008) 17, 266-275.
RET gene
END3 gene
ATP 7A
EDNRB gene