Most common genetic mutation associated with Hirschsprung disease is:: (A) RET gene, (B) END3 gene, (C) ATP 7A, (D) EDNRB gene
Answer is A. 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.