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

Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á Martos-Moreno, Luan T Tran, William Benko, Marjo S van der Knaap, Rosalina M L van Spaendonk, Nicole I Wolf, Geneviève Bernard

Orphanet journal of rare diseases 2015

filter terms:

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.

Citation

Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á Martos-Moreno, Luan T Tran, William Benko, Marjo S van der Knaap, Rosalina M L van Spaendonk, Nicole I Wolf, Geneviève Bernard. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet journal of rare diseases. 2015;10:69