ArticleJournal of human genetics2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.BMC medical genomics · 2023Article
- Review
- A Patient with a NovelMolecular syndromology · 2022Article
- Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.Epilepsia open · 2022Article
- Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.Frontiers in genetics · 2022Article
- Post-transcriptional control of cellular differentiation by the RNA exosome complex.Nucleic acids research · 2020Review
- A term neonate with early myoclonic encephalopathy caused byTranslational pediatrics · 2020Article
- Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PloS one · 2019Article
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Orphanet journal of rare diseases · 2018Review
- Expanding spectrum ofEpilepsia open · 2018Article
- Human aminoacyl-tRNA synthetases in diseases of the nervous system.RNA biology · 2018Review
- Distinct magnetic resonance imaging features in a patient with novelExperimental and therapeutic medicine · 2018Article
- Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.Human molecular genetics · 2017Review
- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?JIMD reports · 2017Article
- Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Orphanet journal of rare diseases · 2016Article
- Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.Scientific reports · 2016Article
- Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Metabolic brain disease · 2016Article
- RARS2 mutations in a sibship with infantile spasms.Epilepsia · 2016Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy, microcephaly, severe mental and motor impairments and seizures. Mutations in 11 genes have been reported in 8 out of 10 forms of PCH. Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase gene (RARS2) have been recently associated with PCH type 6, which is characterized by early-onset encephalopathy with signs of oxidative phosphorylation defect. Here we describe the clinical presentation, neuroimaging findings and molecular characterizations of two siblings with a clinical diagnosis of PCH who displayed a novel variant (c.-2A>G) in the 5'-UTR of the RARS2 gene in the homozygous state. This variant was identified through next-generation sequencing testing of a panel of nine genes known to be involved in PCH. Gene expression and functional studies demonstrated that the c.-2A>G sequence change directly leads to a reduced RARS2 messenger RNA expression in the patients by decreasing RARS2 promoter activity, thus providing evidence that mutations in the RARS2 promoter are likely to represent a new causal mechanism of PCH6.
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