PIEZO2

Function

Pathology

• Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
• Recent studies show that the congenital atrophy in PIEZO2 leads to not having self perception of extremities, and so the distortion in the response to touch. It was performed with two patients who would not be able to attempt to coordinate their movements without visually doing it, nor could they know where their extremities were at.
• PIEZO2 mutations link Gordon syndrome, Marden-Walker syndrome and Arthrogryposis.