Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

M. Gutierrez; I. Thiffault; K. Guerrero; G.A. Martos-Moreno; L.T. Tran; W. Benko; M. Knaap; R.M.L. van Spaendonk; N.I. Wolf; G. Bernard

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

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

M. Gutierrez, I. Thiffault, K. Guerrero, G.A. Martos-Moreno, L.T. Tran, W. Benko, M. Knaap, R.M.L. van Spaendonk, N.I. Wolf, G. Bernard

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19 Citations (Scopus)

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
Article number	69
Pages (from-to)	69
Journal	Orphanet Journal of Rare Diseases
Volume	10
DOIs	https://doi.org/10.1186/s13023-015-0279-9
Publication status	Published - 2015

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

Cite this

@article{b46e391f5b0e4b1bb349d68b68cb6c84,

title = "Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy",

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",

author = "M. Gutierrez and I. Thiffault and K. Guerrero and G.A. Martos-Moreno and L.T. Tran and W. Benko and M. Knaap and {van Spaendonk}, R.M.L. and N.I. Wolf and G. Bernard",

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doi = "https://doi.org/10.1186/s13023-015-0279-9",

language = "English",

volume = "10",

pages = "69",

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issn = "1750-1172",

publisher = "BioMed Central",

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TY - JOUR

T1 - Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

AU - Gutierrez, M.

AU - Thiffault, I.

AU - Guerrero, K.

AU - Martos-Moreno, G.A.

AU - Tran, L.T.

AU - Benko, W.

AU - Knaap, M.

AU - van Spaendonk, R.M.L.

AU - Wolf, N.I.

AU - Bernard, G.

PY - 2015

Y1 - 2015

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

U2 - https://doi.org/10.1186/s13023-015-0279-9

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

M3 - Article

C2 - 26045207

SN - 1750-1172

VL - 10

SP - 69

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

M1 - 69

ER -