Growing evidence has shown that TRPV4 is involved in numerous physiological functions including body osmoregulation and noxious mechanical and thermal sensation, and mutation in the TRPV4 gene is known to cause skeletal dysplasia and neurodegenerative diseases (Heller and O'Neil, 2007; Nilius and Voets, 2013; Garcia-Elias et al., 2014). The gene discussed is TRPV4; the disease is skeletal dysplasia.