Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Martos-Moreno, Luan T. Tran, William Benko, Marjo S. Van Der Knaap, Rosalina M.L. Van Spaendonk, Nicole I. Wolf, Geneviève Bernard

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8 Scopus citations


POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These are the first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions and duplications in POLR3A or POLR3B should be investigated in patients with a compatible phenotype, especially if one pathogenic variant has been identified.

Original languageEnglish (US)
Article number69
JournalOrphanet Journal of Rare Diseases
Issue number1
StatePublished - Jun 5 2015
Externally publishedYes


  • 4H leukodystrophy
  • Deletion
  • Pol III (POLR3)-related leukodystrophy
  • POLR3A
  • POLR3B

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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  • Cite this

    Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G., Tran, L. T., Benko, W., Van Der Knaap, M. S., Van Spaendonk, R. M. L., Wolf, N. I., & Bernard, G. (2015). Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet Journal of Rare Diseases, 10(1), [69].