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.
Pubmed ID: 22036172 RIS Download
Mesh terms: Amino Acid Sequence | Base Sequence | Cerebellum | Child | Codon, Nonsense | Corpus Callosum | Genes, Recessive | Genetic Predisposition to Disease | Hereditary Central Nervous System Demyelinating Diseases | Humans | Models, Molecular | Mutation, Missense | RNA Polymerase III | Sequence Homology, Amino Acid
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Collection of human genes and genetic phenotypes, focusing on the relationship between phenotype and genotype. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and a variety of related genes. It is updated daily, and the entries contain copious links to other genetics resources.
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