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Related Experiment Video

Updated: May 13, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Stefanie Perrier^1,2, Julia Macintosh^1,2, Agata D Misiaszek^3,4

¹Department of Neurology and Neurosurgery McGill University, Montréal, Quebec, Canada.

|April 14, 2025

Summary

This study details a patient with POLR3-related hypomyelinating leukodystrophy (POLR3-HLD) caused by novel POLR3K gene variants. The findings expand the known genetic causes of this rare neurological disorder.

Keywords:

POLR3-related leukodystrophy POLR3K Pol III RNA polymerase III RPC10 case report hypomyelination

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

POLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare inherited neurological disorder.
It is caused by pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III).

Purpose of the Study:

To report the third patient worldwide with pathogenic variants in the POLR3K gene.
To characterize the clinical features and genetic basis of POLR3-HLD in this patient.

Main Methods:

Next-generation sequencing was used to identify pathogenic variants in POLR3K.
RNA-level expression studies were conducted to assess the impact of the variants.
Brain MRI was performed to evaluate myelination patterns.

Main Results:

The patient presented with intellectual and behavioral disturbances, growth delay, and minor motor dysfunction.
Novel pathogenic variants in POLR3K, including a missense variant and a large deletion, were identified.
Reduced POLR3K RNA levels and decreased expression of specific tRNAs were observed, suggesting partial Pol III function.

Conclusions:

This case provides further evidence linking pathogenic variants in POLR3K to POLR3-HLD.
The findings expand the spectrum of genetic causes for this rare leukodystrophy.
Understanding these variants contributes to the diagnosis and potential therapeutic strategies for POLR3-HLD.