Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

• Published in: American journal of human genetics Vol. 89; no. 3; pp. 415 - 423
• Main Authors: Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 09.09.2011; Cell Press; Elsevier
• Subjects: Amino Acid Sequence; Base Sequence; Biological and medical sciences; Brain; Chromosomes, Human, Pair 10 - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes, Recessive - genetics; Genetic Predisposition to Disease - genetics; Genetics of eukaryotes. Biological and molecular evolution; Hereditary Central Nervous System Demyelinating Diseases - genetics; Hereditary Central Nervous System Demyelinating Diseases - pathology; Humans; Medical genetics; Medical sciences; Minority & ethnic groups; Models, Molecular; Molecular and cellular biology; Molecular Sequence Data; Mutagenesis, Insertional - genetics; Mutation; Mutation, Missense - genetics; Neurodegeneration; Neurology; Proteins; Quebec; RNA polymerase; RNA Polymerase III - chemistry; RNA Polymerase III - genetics; Sequence Analysis, DNA; Tremor - genetics; Tremor - pathology; Human; Catalytic subunit; Nervous system diseases; Enzyme; Leukodystrophy; Transferases; DNA-directed RNA polymerase; Cerebral disorder; Genetic disease; Nucleotidyltransferases; Central nervous system disease; Recessive character; Genetics; Degenerative disease; Mutation

Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia wi...