Gain-of-function mutation of a voltage-gated sodium channel Na_V1.7 associated with peripheral pain and impaired limb development.

ABSTRACT: Dominant mutations in voltage-gated sodium channel Na_V1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain and redness of the distal extremities. Na_V1.7 is preferentially expressed within peripheral sensory and sympathetic neurons. Here, we describe a novel Na_V1.7 mutation in an 11-year-old male with underdevelopment of the limbs, recurrent attacks of burning pain with erythema, and swelling in his feet and hands. Frequency and duration of the episodes gradually increased with age, and relief by cooling became less effective. The patient's sister had short stature and reported similar complaints of erythema and burning pain, but with less intensity. Genetic analysis revealed a novel missense mutation in Na

SUBMITTER: Tanaka BS 

PROVIDER: S-EPMC5454107 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature