Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin

Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene, encoding a polymodal Ca2+ permeable channel, have been associated with a spectrum of dominantly inherited skeletal dysplasias and neuropathies. The clinical manifestations of TRPV4-associated disorders are highly heterogeneous. This study describes a large Chinese family with a novel mutation in the TRPV4 gene. Nineteen individuals from this family were investigated. Clinical, electrophysiological, and radiographic examinations were performed.

from Journal of the Neurological Sciences https://ift.tt/361gQIu