Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Autor:	Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á, Tran, Luan T, Benko, William, van der Knaap, Marjo S, van Spaendonk, Rosalina M L, Wolf, Nicole I, Bernard, Geneviève
Přispěvatelé:	Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Other departments, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease
Rok vydání:	2015
Předmět:	Pol III (POLR3)-related leukodystrophy Male Adolescent POLR3A POLR3B Infant RNA Polymerase III Genes Recessive Exons Deletion Hereditary Central Nervous System Demyelinating Diseases SDG 3 - Good Health and Well-being 4H leukodystrophy Humans Female Letter to the Editor Sequence Deletion
Zdroj:	Orphanet Journal of Rare Diseases, 10:69. BioMed Central Gutierrez, M, Thiffault, I, Guerrero, K, Martos-Moreno, G A, Tran, L T, Benko, W, Knaap, M, 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, vol. 10, 69 . https://doi.org/10.1186/s13023-015-0279-9 Gutierrez, M, Thiffault, I, Guerrero, K, Martos-Moreno, G A, Tran, L T, Benko, W, Knaap, M, 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, vol. 10, 69 . https://doi.org/10.1186/s13023-015-0279-9 Orphanet Journal of Rare Diseases Orphanet journal of rare diseases, 10. BioMed Central Orphanet journal of rare diseases, 10:69. BioMed Central Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid
ISSN:	1750-1172
DOI:	10.1186/s13023-015-0279-9
Popis:	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.
Databáze:	OpenAIRE
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