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[A Case of Pol III-related Leukodystrophy with Homozygous Mutation in POLR3A].

Brain and nerve = Shinkei kenkyu no shinpo - 1 Nov 2016

Shima Tomoaki, Fujimoto Takeshi, Miyazaki Teiichiro, Nonaka Fumiaki

Abstract excerpt

We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and...

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Identifiers

PMID: 27852030
DOI: 10.11477/mf.1416200603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A Case of Pol III-related Leukodystrophy with Homozygous Mutation in POLR3A].PMID 27852030Read ↗

[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].Semantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with 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 ↗

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

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic 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 patient with hypomyelinating POLR3-related leukodystrophy.Semantic 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 ↗

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.Semantic proximity Read ↗

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophySemantic proximity Read ↗

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.Semantic proximity Read ↗

[Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Semantic proximity Read ↗

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