Hirschsprung's disease results from failure of neural crest cell migration to the distal bowel. The gene most commonly mutated in sporadic Hirschsprung's disease is:

• A APC gene
• B EDNRB (Endothelin receptor type B)
• C RET proto-oncogene ✓
• D SOX10

Explanation

Mutations in the RET proto-oncogene account for approximately 50% of familial and 15–35% of sporadic Hirschsprung's disease cases, making it the most commonly implicated gene. RET encodes a receptor tyrosine kinase required for enteric nervous system development. EDNRB mutations are responsible for approximately 5% of cases and are associated with Waardenburg-Shah syndrome. SOX10 mutations are linked to Waardenburg syndrome with Hirschsprung's. Long-segment disease is more strongly associated with RET mutations.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.