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Article

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

American journal of human genetics - 11 Nov 2011

Saitsu Hirotomo, Osaka Hitoshi, Sasaki Masayuki, Takanashi Jun-Ichi, Hamada Keisuke, Yamashita Akio, Shibayama Hidehiro, Shiina Masaaki, Kondo Yukiko, Nishiyama Kiyomi, Tsurusaki Yoshinori, Miyake Noriko, Doi Hiroshi, Ogata Kazuhiro, Inoue Ken, Matsumoto Naomichi

Abstract excerpt

Congenital hypomyelinating disorders are a heterogeneous group of inherited leukoencephalopathies characterized by abnormal myelin formation. We have recently reported a hypomyelinating syndrome characterized by diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). We performed whole-exome sequencing of three unrelated individuals with HCAHC and identified...

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Identifiers

PMID: 22036171
DOI: 10.1016/j.ajhg.2011.10.003
PMCID: PMC3213392

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.PMID 22036171Read ↗

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

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

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

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

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Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

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

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

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.Semantic proximity Read ↗

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

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