Question

"Patient: 2 week-old new-born male

Chief complaint: The patient's parents are concerned with the infant's poor appetite, distended abdomen and infrequent bowel movements.
Background: None
Current Findings: Abdominal radiograph shows a dilated distal colon. Rectal suction biopsy confirms the absence of ganglion cells in the wall of the intestine.

To identify the genetic cause of the patient's condition, which gene(s) would you recommend testing for possible mutations? (select all correct answers)
a. Sonic hedgehog
b. Sox10
c. Tcof1
d. Wnt-1
e. Endothelin receptor B"

Answer 1

OPtion E. To identify the genetic cause of the patient's condition, which shows signs of Hirschsprung's disease, genes SOX10 and Endothelin receptor B should be tested for possible mutations.

Step-by-step explanation:

The patient's symptoms and findings, including the dilated distal colon and absence of ganglion cells on rectal suction biopsy, are indicative of Hirschsprung's disease. This is a disorder of the gastrointestinal tract where there is a lack of ganglion cells in the intestinal wall leading to bowel obstruction. To identify the genetic cause of Hirschsprung's disease in the patient, testing for possible mutations in the following genes is recommended:

• SOX10
• Endothelin receptor B

Both SOX10 and Endothelin receptor B are known to be associated with the development of Hirschsprung's disease. Mutations in these genes can lead to the defects in the enteric nervous system that characterize this condition. In this case, determining the genetic basis may inform treatment decisions and help with family planning for any potential future risks.