Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

M. Gutierrez, I. Thiffault, K. Guerrero, G.A. Martos-Moreno, L.T. Tran, W. Benko, M. Knaap, R.M.L. van Spaendonk, N.I. Wolf, G. Bernard

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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 languageEnglish
Article number69
Pages (from-to)69
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 2015

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