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

doi:10.1186/s13023-015-0279-9

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

Research output: Contribution to journal › Article

8 Scopus citations

Abstract

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 language	English (US)
Article number	69
Journal	Orphanet Journal of Rare Diseases
Volume	10
Issue number	1
DOIs	https://doi.org/10.1186/s13023-015-0279-9
State	Published - Jun 5 2015
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Genetics(clinical)
Pharmacology (medical)

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10.1186/s13023-015-0279-9

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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]. https://doi.org/10.1186/s13023-015-0279-9

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. / Gutierrez, Mariana; Thiffault, Isabelle; Guerrero, Kether; Martos-Moreno, Gabriel; Tran, Luan T.; Benko, William; Van Der Knaap, Marjo S.; Van Spaendonk, Rosalina M.L.; Wolf, Nicole I.; Bernard, Geneviève.

In: Orphanet Journal of Rare Diseases, Vol. 10, No. 1, 69, 05.06.2015.

Research output: Contribution to journal › Article

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