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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Phenotype Spectrum in VRK1 Pathogenic Variants.

Elia Gebran Malek1, Suur Biliciler, Kazim Sheikh

  • 1University of TX Health Science Center at Houston, Houston, TX.

Journal of Clinical Neuromuscular Disease
|June 2, 2026
PubMed
Summary
This summary is machine-generated.

Pathogenic variants in the Vaccinia-Related-Kinase-1 (VRK1) gene cause a rare motor neuropathy. This study details a patient with VRK1-related neuropathy, highlighting its diverse clinical features and multisystem involvement.

Keywords:
VRK1 pathogenic variantsdistal neuronopathymotor neuronopathy

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Pathogenic variants in the Vaccinia-Related-Kinase-1 (VRK1) gene are associated with neurological disorders.
  • VRK1-related presentations show significant phenotypic heterogeneity, including multisystem involvement.
  • Early onset may correlate with disease severity.

Purpose of the Study:

  • To present a case of a 33-year-old patient with a VRK1 pathogenic variant.
  • To detail the clinical and electrophysiologic findings, including distal symmetric motor and sensory involvement, cataracts, and cryptorchism.
  • To review the phenotypic spectrum of VRK1 gene variants.

Main Methods:

  • Clinical case presentation.
  • Electrophysiologic studies.
  • Literature review.

Main Results:

  • The patient exhibited distal symmetric motor neuropathy with sensory manifestations.
  • Additional findings included bilateral cataracts and cryptorchism.
  • The literature review confirmed phenotypic heterogeneity and potential correlation between onset age and severity.

Conclusions:

  • VRK1 pathogenic variants can lead to a spectrum of neurological and systemic manifestations.
  • This case expands the understanding of VRK1-related disorders.
  • Further research is needed to fully elucidate the genotype-phenotype correlations.