Genetic studies have demonstrated that a variety of gene mutations are associated with the pathogenesis of HSCR, such as tyrosine kinase receptor ret proto‐oncogene (RET), endothelial endothelin 3 (EDN3), transcription regulatory genes SRY‐box transcription factor 10 (Sox10), paired‐like homeobox 2B (PHOX2B) and zinc finger E‐box binding homeobox 2 (ZEB2), etc. However, only about 50% of pedigreed cases and 20% of random cases can be attributed to mutations of these well‐known genes, such as RET.4, 5, 6, 7, 8, 9. The gene discussed is RET; the disease is Hirschsprung disease.