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Article

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

American journal of human genetics - 11 Nov 2011

Tétreault Martine, Choquet Karine, Orcesi Simona, Tonduti Davide, Balottin Umberto, Teichmann Martin, Fribourg Sébastien, Schiffmann Raphael, Brais Bernard, Vanderver Adeline, Bernard Geneviève

Abstract excerpt

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...

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Identifiers

PMID: 22036172
DOI: 10.1016/j.ajhg.2011.10.006
PMCID: PMC3213403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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