Loss-of-function mutations in what gene(s)can cause pharyngeal aortic arch defects?

Question

Quizplus · Accepted Answer

All of the genes listed (Tbx1, Fgf8, Endothelin converting enzyme-1 (Ece1), Pitx2c) have been implicated in the development of the pharyngeal apparatus and its derivatives, including the aortic arches. Loss-of-function mutations in any of these genes can lead to pharyngeal aortic arch defects, as they play crucial roles in the development and patterning of the pharyngeal region and its associated structures.

Loss-Of-Function Mutations in What Gene(s)can Cause Pharyngeal Aortic Arch Defects