ArticleJIMD reports2017
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Article in JIMD reports, 2017. 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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13 citing papers in PubMed, 21 citations in OpenAlex.
- Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused byJournal of medical genetics · 2026Article
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.BMC medical genomics · 2024Article
- Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.Epilepsia open · 2024Article
- A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.BMC medical genomics · 2023Article
- A Patient with a NovelMolecular syndromology · 2022Article
- Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.Epilepsia open · 2022Article
- easyCLIP analysis of RNA-protein interactions incorporating absolute quantification.Nature communications · 2021Article
- [Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PloS one · 2019Article
- What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Orphanet journal of rare diseases · 2018Review
- Article
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and infratentorial structures. Early pontocerebellar hypoplasia was virtually absent and respiratory chain (RC) defects could not be detected in muscle biopsies. Both patients carried a novel missense mutation c.1544A>G (p.(Asp515Gly)) in combination with either a splice site (c.297+2T>G) or a frameshift (c.452_454insC) mutation. The splice site mutation induced skipping of exon 4.These two patients expand the phenotypical spectrum associated with RARS2 mutations beyond the first report of PCH6 by Edvardson and colleagues. We propose to classify RARS2-associated phenotypes as an early onset mitochondrial encephalopathy, since this is more in agreement with both clinical presentation and underlying genetic cause.
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