Phenotype Spectrum in VRK1 Pathogenic Variants.

Abstract

Abstract: Vaccinia-Related-Kinase-1 (VRK1) gene pathogenic variants have been identified in patients presenting with a slowly progressive symmetric distal weakness with electrophysiologic findings predominantly suggestive of pure motor axonal neuropathy/neuronopathy. VRK1-related presentations exhibit a considerable phenotypic heterogeneity with a proportion of patients presenting with features suggestive of multisystem involvement. Notably, the severity of the phenotype might have a correlation with the earlier age of onset. We present a case of a 33-year-old patient with a VRK1 pathogenic variant with clinical and electrophysiologic findings of distal symmetric motor involvement along with sensory manifestation, bilateral cataracts, and cryptorchism. A brief literature review of phenotypic spectrum associated with pathogenic variants in VRK1 gene is also presented.