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Related Experiment Video

Updated: Dec 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Elevated Leukodystrophy Incidence Predicted From Genomics Databases.

Haille E Soderholm1, Alexander B Chapin2, Pinar Bayrak-Toydemir2

  • 1Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

Pediatric Neurology
|September 21, 2020
PubMed
Summary

Leukodystrophy incidence is higher than previously estimated, affecting 1 in 4733 live births. This suggests significant underdiagnosis of these genetic white matter diseases.

Keywords:
Genetic modifiersIncidenceKrabbe diseaseLeukodystrophygnomAD

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Leukodystrophies are fatal genetic disorders impacting white matter.
  • Accurate incidence data is crucial for understanding disease burden.

Purpose of the Study:

  • To determine the incidence of leukodystrophies.
  • Utilize genomic sequencing databases and allele frequencies of causative variants.

Main Methods:

  • Analyzed 49 genes associated with leukodystrophies.
  • Extracted variant data from HGMD and gnomAD.
  • Calculated incidence using Hardy-Weinberg equation.

Main Results:

  • Identified 4564 pathogenic variants across 25 leukodystrophies.
  • Predicted Krabbe disease (GALC variants) incidence at 1:12,080.
  • RNA polymerase III-related disorders incidence predicted at 1:26,160.
  • Overall leukodystrophy incidence estimated at 1:4733 live births.

Conclusions:

  • Leukodystrophy incidence is significantly underestimated.
  • Underdiagnosis is likely prevalent in clinical settings.
  • Genetic modifiers may influence disease presentation and onset.