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 › peer-review

11 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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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 › peer-review

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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.",

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AU - Gutierrez, Mariana

AU - Thiffault, Isabelle

AU - Guerrero, Kether

AU - Martos-Moreno, Gabriel

AU - Tran, Luan T.

AU - Benko, William

AU - Van Der Knaap, Marjo S.

AU - Van Spaendonk, Rosalina M.L.

AU - Wolf, Nicole I.

AU - Bernard, Geneviève

PY - 2015/6/5

Y1 - 2015/6/5

N2 - 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.

AB - 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.

KW - 4H leukodystrophy

KW - Deletion

KW - Pol III (POLR3)-related leukodystrophy

KW - POLR3A

KW - POLR3B

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JO - Orphanet Journal of Rare Diseases

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ER -

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Abstract

Keywords

ASJC Scopus subject areas

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