Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

doi:10.1016/j.ajhg.2011.07.014

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Article

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

American journal of human genetics - 9 Sept 2011

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

Abstract excerpt

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 with central hypomyelination (TACH) to 10q22.3-23.1 in French-Canadian families and sequenced candidate genes within...

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Identifiers

PMID: 21855841
DOI: 10.1016/j.ajhg.2011.07.014
PMCID: PMC3169829

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AIMP1

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Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.PMID 21855841Read ↗

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

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.Semantic proximity Read ↗

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathySemantic proximity Read ↗

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.Semantic proximity Read ↗

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.Semantic proximity Read ↗

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.Semantic proximity Read ↗

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Semantic proximity Read ↗

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.Semantic proximity Read ↗

RNA Polymerase III Subunit Mutations in Genetic DiseasesSemantic proximity Read ↗

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