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.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- eggNOG 5.0: a hierarchical, functionally and phylogenetically annotated orthology resource based on 5090 organisms and 2502 viruses
- Online Survival Analysis Software to Assess the Prognostic Value of Biomarkers Using Transcriptomic Data in Non-Small-Cell Lung Cancer
- OptiType: precision HLA typing from next-generation sequencing data
- Nicotinic Cholinergic System and COVID-19: In Silico Identification of an Interaction between SARS-CoV-2 and Nicotinic Receptors with Potential Therapeutic Targeting Implications
- Saccharomyces cerevisiae cells have three Omega class glutathione S-transferases acting as 1-Cys thiol transferases
- Hemolysis at low blood flow rates: in-vitro and in-silico evaluation of a centrifugal blood pump
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.