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) |
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Article number | 69 |
Journal | Orphanet Journal of Rare Diseases |
Volume | 10 |
Issue number | 1 |
DOIs | |
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)