Title

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

Document Type

Article

Publication Date

6-5-2015

Identifier

doi: 10.1186/s13023-015-0279-9

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.

Journal Title

Orphanet J Rare Dis

Volume

10

First Page

69

Last Page

69

MeSH Keywords

Adolescent; Exons; Female; Genes, Recessive; Hereditary Central Nervous System Demyelinating Diseases; Humans; Infant; Male; RNA Polymerase III; Sequence Deletion

Keywords

Exons; Genes, Recessive; Hereditary Central Nervous System Demyelinating Diseases; RNA Polymerase III; Sequence Deletion

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