Mutations in TRPV4 that are found within the ankyrin-repeat domain (TRPV4-G270V, -R271P, -F273L) have previously been shown to lead to inherited arthropathy in patients, and result in reduced Ca2+ influx in response to GSK1016790A and 4α-PDD in in vitro analyses of channel function (Lamandé et al., 2011). Here, TRPV4 is linked to arthropathy.