ArticleBMC pediatrics2019
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report.
Article in BMC pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 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
- Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.Molecular genetics & genomic medicine · 2024Article
- Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.Scientific reports · 2024Article
- Novel Pathogenic Variants inHuman mutation · 2024Article
- POLR3-related leukodystrophy caused by biallelicFrontiers in neurology · 2024Article
- A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report.Annals of medicine and surgery (2012) · 2023Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- A Chinese patient withFrontiers in neurology · 2023Article
- Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.BMC pediatrics · 2022Article
- Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.Neuropathology : official journal of the Japanese Society of Neuropathology · 2022Article
- Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.American journal of medical genetics. Part A · 2022Article
- A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemiaFrontiers in molecular neuroscience · 2022Article
- Variants inHGG advances · 2021Article
- Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.Neurology. Genetics · 2020Article
- POLR3A variants with striatal involvement and extrapyramidal movement disorder.Neurogenetics · 2020Article
- POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.Frontiers in cellular neuroscience · 2020Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPOLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and cerebellar symptoms, as well as mild cognitive regression and hypodontia. POLR3-related leukodystrophy belongs to the family of RNA polymerase III-related leukodystrophy, which are caused by biallelic mutations in the POLR3A, POLR3B, POLRC1, or POLR3K genes. CASE PRESENTATION: In this study, we report a female child with POLR3-related leukodystrophy manifesting as cognitive decline, moderate dysarthria, motor decline, cerebellar syndrome, short stature, dysphagia, hypodontia, and mild delayed myelination by brain imaging. Interestingly, polytrichia and bronchodysplasia were first observed in a POLR3-related leukodystrophy patient. Medical exome sequencing with high coverage depth was employed to identify potential genetic variants in the patient. Novel compound heterozygous mutations of the POLR3A gene, c.1771-6C > G and c.2611del (p.M871Cfs*8), were detected. One of them is an uncommon splice site mutation, and this is the first report of this mutation in a Chinese family. The father was determined to be a heterozygous carrier of the c.2611del (p.M871Cfs*8) mutation and the mother a heterozygous carrier of the c.1771-6C > G mutation.
conclusionThe patient's newly emerged clinical features and mutations provide useful information for further exploration of genotype-phenotype correlations of POLR3-related leukodystrophy.
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