CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

ABSTRACT:

Background

Recently, mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been reported in Charcot-Marie-Tooth Type 2C (CMT2C) with vocal cord paresis. Other mutations in this same gene have been described in separate families with various skeletal dysplasias. Further clarification is needed of the different phenotypes associated with this gene.

Methods

We performed clinical evaluation, electrophysiology, and genetic analysis of the TRPV4 gene in 2 families with CMT2C.

Results

Two multigenerational families had a motor greater than sensory axonal neuropathy associated with variable vocal cord paresis. The vocal cord paresis varied from absent to severe, requiring permanent tracheotomy in 2 subjects. One family with mild

SUBMITTER: Chen DH 

PROVIDER: S-EPMC3014233 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature