Ontology highlight
ABSTRACT:
SUBMITTER: Tetreault M
PROVIDER: S-EPMC3213403 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Tétreault Martine M Choquet Karine K Orcesi Simona S Tonduti Davide D Balottin Umberto U Teichmann Martin M Fribourg Sébastien S Schiffmann Raphael R Brais Bernard B Vanderver Adeline A Bernard Geneviève G
American journal of human genetics 20111027 5
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 cerebe ...[more]