Dissemin is shutting down on January 1st, 2025

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Cell Press, American Journal of Human Genetics, 5(89), p. 652-655, 2011

DOI: 10.1016/j.ajhg.2011.10.006

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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Journal article published in 2011 by Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin ORCID, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes. We uncovered in three cases without POLR3A mutation recessive mutations in POLR3B, which codes for the second largest subunit of Pol III. Mutations in genes coding for Pol III subunits are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic hypogonadism.