ArticleBiomedicines2022
Identification of a Novel Missense Mutation of
Article in Biomedicines, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 12 citations in OpenAlex.
- Genetic Diagnosis and Discovery Enabled by Large Language Models.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Neurodegeneration Biomarkers in Epilepsy: A Critical Review of Current Findings.Life (Basel, Switzerland) · 2026Review
- Article
- Associations of Healthy Sleep Patterns with Psoriasis Risk: Insights from a Longitudinal Cohort Study.International journal of behavioral medicine · 2025Article
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.Italian journal of pediatrics · 2025Article
- "Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Implications of aCurrent issues in molecular biology · 2024Article
- POLR3A-related disorders: expanding the clinical phenotype.Journal of neurology · 2024Article
- Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.Scientific reports · 2024Article
- Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.Molecular genetics & genomic medicine · 2024Article
- A Chinese patient withFrontiers in neurology · 2023Article
- Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3) missense mutations are related to the pathogenesis of POLR3-related leukodystrophy and spastic ataxia. Herein, in a cohort of five families from Sicily (Italy), we detected two cases of patients affected by POLR3-related leukodystrophy, one due to a compound heterozygous mutation in the POLR3A gene, including a previously undescribed missense mutation (c.328A > G (p.Lys110Glu)). Our study used an in-house NGS gene panel comprising 41 known leukodystrophy genes. Successively, we used a predictive test supporting the missense mutation as causative of disease, thus this mutation can be considered “Likely Pathogenic” and could be as a new pathogenetic mutation of the POLR3A gene causing a severe form of POLR3-HLD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.