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Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H

E Jurkiewicz1, D Dunin-Wąsowicz2, D Gieruszczak-Białek3,4

  • 1Department of Diagnostic Imaging, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland. e-jurkiewicz@o2.pl.

Clinical Neuroradiology
|October 20, 2015
PubMed

Insights

4H leukodystrophy diagnosis relies on clinical signs and MRI. Genetic confirmation of POLR3B mutations is crucial for early diagnosis, especially in children lacking hypogonadotropic hypogonadism.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • 4H leukodystrophy is a rare genetic disorder characterized by hypomyelination, hypogonadotropic hypogonadism, and hypodontia.
  • Mutations in POLR3A and POLR3B genes, encoding RNA polymerase III subunits, are identified causes of hypomyelination.
  • Diagnosis typically involves clinical evaluation and brain MRI.

Observation:

  • Two Polish female siblings presented with clinical and MRI findings consistent with 4H leukodystrophy.
  • The siblings, aged 5 and 10, had compound heterozygous mutations in the POLR3B gene.
  • They also exhibited polymicrogyria and cataracts.

Findings:

  • Brain MRI findings are essential for early 4H leukodystrophy diagnosis in young children, even without hypogonadotropic hypogonadism.
  • The study identified POLR3B mutations as the cause in the described siblings.
  • Clinical and radiological data support the diagnosis, but genetic confirmation is definitive.

Implications:

  • Early diagnosis of 4H leukodystrophy is possible through advanced neuroimaging in pediatric cases.
  • Understanding POLR3B mutations expands the genetic landscape of leukodystrophies.
  • Genetic testing is vital for accurate diagnosis and potential future therapeutic strategies.
Keywords:
4H leukodystrophyCataractChildrenHypomyelinationMagnetic resonance imagingPolymicrogyria

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