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

M Tétreault, K Choquet, S Orcesi, D Tonduti… - The American Journal of …, 2011 - cell.com
M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, S Fribourg
The American Journal of Human Genetics, 2011cell.com
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 …
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.
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