In a study involving patients from 21 families, five more TRPV4 mutations were found to be associated to skeletal dysplasias: K407E, R594S, Q239H, Y591C, and the insertion/duplication L523 [190], and it was suggested that mutations that caused skeletal dysplasias could also cause neuropathic diseases, leading researchers to describe the presence of another three mutations in 3 patients: E278K, P799R, and A217S [193] (Figure 5). This evidence concerns the gene TRPV4 and skeletal dysplasia.