Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Shireen Lamandé and colleagues report mutations in TRPV4 in familial digital arthropathy-brachydactyly (FDAB), which is characterized by osteoarthropathy of the fingers and toes. TRPV4 is a cation channel, and functional experiments suggest mutant proteins are not localized properly to the cell surface.