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Article

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

Cell communication and signaling : CCS - 4 Feb 2026

Rey Federica, Casamassa Alessia, Di Cristofano Samuele, Esposito Letizia, Soriano Amata Amy, Messa Letizia, Berardo Clarissa, Hazrati Mahsa, Ferrone Ilaria, Bonnet Maxime, Bruschi Fabio, Vaia Ylenia, Marano Massimo, Bertini Enrico, Nicita Francesco, Tonduti Davide, Zuccotti Gianvincenzo, Vescovi Angelo Luigi, Raimondo Domenico, Rosati Jessica, Carelli Stephana, Cereda Cristina

Abstract excerpt

BACKGROUND: Hypomyelinating leukodystrophies (HLDs) are rare genetic neurodevelopmental disorders characterized by defective myelin formation. The genetic cause of these disorders has been ascribed to mutations in genes encoding myelin protein components, such as proteolipid protein 1 (PLP1) and myelin basic protein (MBP), or in genes encoding for transcription and translation-related proteins. Particularly,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41634725
DOI: 10.1186/s12964-026-02693-7
PMCID: PMC12964815

Genes

POLR3A
MBP
PLP1
POLR1C
POLR3B
POLR3D
POLR3K

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.PMID 41634725Read ↗

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

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

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

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

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

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

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

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

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

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

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Semantic proximity Read ↗

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