TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.

ABSTRACT:

Objective

Distinct dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evidence suggests that some patients develop mixed phenotypes that include elements of both neuromuscular and skeletal disease. We sought to define the genetic and clinical features of these patients.

Methods

We report a 2-year-old with a novel R616G mutation in TRPV4 with a severe neuropathy phenotype and bilateral vocal cord paralysis. Interestingly, a different substitution at the same residue, R616Q, has been reported in families with isolated skeletal dysplasia. To gain insight into clinical features and potential genetic determinants of m

SUBMITTER: Taga A 

PROVIDER: S-EPMC8935273 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature