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Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.

Malak Alghamdi1,2, Ghaida Alghamdi3, Khalid Hundallah4

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American Journal of Medical Genetics. Part A
|May 21, 2025
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Summary

This case report details a child with hypomyelinating leukodystrophy type 20 (HLD20), identifying a new CNP gene variant. This finding expands understanding of HLD20

Keywords:
CNP gene2′,3′‐cyclic nucleotide 3′‐phosphodiesteraseHypomyelinating leukodystrophy type 20microcephalyneurodegenerative disorder

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Area of Science:

  • Neuroscience
  • Genetics
  • Rare Diseases

Background:

  • Hypomyelinating leukodystrophy type 20 (HLD20) is a rare neurodegenerative disorder affecting myelin formation.
  • Genetic mutations in the CNP gene are implicated in HLD20.
  • Understanding the genetic basis of HLD20 is crucial for diagnosis and potential therapies.

Observation:

  • A pediatric patient presented with severe neurodevelopmental abnormalities, including delayed motor milestones and seizures.
  • The patient exhibited distinct facial dysmorphia.
  • Genetic analysis revealed a novel homozygous variant (c.295G>T p.(Glu99*)) in the CNP gene.

Findings:

  • The identified CNP gene variant was confirmed to be associated with HLD20.
  • RT-qPCR analysis demonstrated significantly reduced CNP mRNA expression in the patient's sample compared to controls.
  • This represents a novel genetic cause for HLD20.

Implications:

  • This case expands the known clinical and genetic spectrum of hypomyelinating leukodystrophy type 20.
  • Highlights the importance of genetic testing in diagnosing complex neurodevelopmental disorders.
  • Provides insights into the role of CNP in myelin development and HLD20 pathogenesis.