Incidence and Clinical Features of TRPV4 -Linked Axonal Neuropathies in a USA Cohort of Charcot –Marie–Tooth Disease Type 2

In this study, we screened forTRPV4 mutations in a well-characterized USA cohort of 62 unrelated CMT2 patients without mutations inMFN2,GARS,NEFL, andGDAP1. All 15 coding exons ofTRPV4 were analyzed by Sanger-sequencing. Clinical features ofTRPV4-linked patients were compared with those lacking TRPV4 mutations. We identified twoTRPV4 mutations in two patients. A TRPV4-R316C was identified in a patient with family history, while a TRPV4-R269C in an apparently sporadic case. Marked clinical variations were observed in the patients withTRPV4 mutations. Our data suggest thatTRPV4-linked CMT2C accounts for a sizable fraction in this USA cohort of CMT2; it has a wide phenotypic spectrum, and vocal cord paralysis, scapular weakness and wasting, skeletal dysplasia, and hearing loss are suggestive signs for TRPV4-linked CMT2C.
Source: NeuroMolecular Medicine - Category: Neurology Source Type: research