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Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Alexa Derksen1,2, Rachel Thompson2, Madeeha Shaikh3

  • 1Department of Cellular and Molecular Medicine University of Ottawa, Ottawa, Ontario, Canada.

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|April 14, 2025
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Summary

GNE myopathy (GNEM) affects more people than previously thought. This study estimates GNEM prevalence using genetic data, suggesting higher rates than earlier predictions.

Keywords:
GNE myopathygenetic databaseneuromuscular diseasepopulationprevalencerare diseasevariants

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • GNE myopathy (GNEM) is a rare, progressive muscle-wasting disorder.
  • Previous prevalence estimates are limited by underdiagnosis and misdiagnosis.

Purpose of the Study:

  • To estimate the prevalence of GNE myopathy using allele frequencies from healthy populations.
  • To compile a comprehensive list of pathogenic GNE variants.

Main Methods:

  • Reviewed literature and databases for pathogenic GNE variants.
  • Utilized in silico tools (MAVERICK, AlphaMissense) to predict variant pathogenicity.
  • Calculated prevalence using Hardy-Weinberg Equilibrium with gnomAD data.

Main Results:

  • Generated the most extensive list of pathogenic GNE variants to date.
  • Estimated GNEM prevalence ranging from 11.00 to 95.42 cases per million.
  • Found GNEM is more widespread than previously believed.

Conclusions:

  • Current genetic data suggests a higher prevalence of GNE myopathy.
  • Improved diagnostic approaches and awareness are crucial for understanding GNEM's true impact.