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- Title
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.
- Authors
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
- 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.
- Subjects
DELETION mutation; EXONS (Genetics); LEUKODYSTROPHY; GENETIC mutation; ANTISENSE DNA; HUMAN phenotype
- Publication
Orphanet Journal of Rare Diseases, 2015, Vol 10, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/s13023-015-0279-9