Dominant mutations in PIEZO2, which codes for the principal mechanotransduction 
channel for proprioception and touch sensation, have been found to cause 
different forms of distal arthrogryposis. Some observations suggest that these 
dominant mutations induce a gain-of-function effect on the channel. Here, we 
report a consanguineous family with three siblings who showed short stature, 
scoliosis, gross motor impairment, and a progressive form of contractures 
involving the distal joints that is distinct from that found in patients with 
dominant mutations in PIEZO2. These siblings also displayed deficits in 
proprioception and touch sensation. Whole-exome sequencing performed in the 
three affected siblings revealed the presence of a rare homozygous variant 
(c.2708C>G; p.S903*) in PIEZO2. This variant is predicted to disrupt PIEZO2 
function by abolishing the pore domain. Sanger sequencing confirmed that all 
three siblings are homozygous whereas their parents and an unaffected sibling 
are heterozygous for this variant. Recessive mutations in PIEZO2 thus appear to 
cause a progressive phenotype that overlaps with, while being mostly distinct 
from that associated with dominant mutations in the same gene.