ArticleAmerican journal of human genetics2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis that pooled it.
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Who cites it
104 citing papers in PubMed, 1 synthesis or guideline pooled it, 184 citations in OpenAlex.
- Investigation of gene-environment interactions in relation to tic severity.Journal of neural transmission (Vienna, Austria : 1996) · 2021Pooled it
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.Annals of neurology · 2026Article
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- RNA-based discovery and correction of splicing defects caused byMolecular therapy. Nucleic acids · 2026Article
- Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.Cell communication and signaling : CCS · 2026Article
- "Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy.Movement disorders clinical practice · 2025Article
- POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.Cureus · 2025Article
- Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.International journal of molecular sciences · 2025Article
- POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.Pediatric neurology · 2025Article
- Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.Genome medicine · 2025Article
- Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.Journal of child neurology · 2025Article
- Biallelic variants inBrain communications · 2025Article
- Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.Biomolecules · 2024Review
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism.Genome medicine · 2024Article
- Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.Scientific reports · 2024Article
- The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases.Molecular brain · 2024Review
- Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.Human genetics · 2024Article
- AbioRxiv : the preprint server for biology · 2024Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
Abstract
Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes. We uncovered in three cases without POLR3A mutation recessive mutations in POLR3B, which codes for the second largest subunit of Pol III. Mutations in genes coding for Pol III subunits are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic hypogonadism.
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Registered trials
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