ArticleJournal of neuropathology and experimental neurology2015
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Article in Journal of neuropathology and experimental neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 38 citations in OpenAlex.
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- Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.JIMD reports · 2026Article
- Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.Human molecular genetics · 2024Article
- Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.Epilepsia open · 2024Article
- Mitochondrial proteins as therapeutic targets in diabetic ketoacidosis: evidence from Mendelian randomization analysis.Frontiers in pharmacology · 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
- PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nature reviews. Neurology · 2020Review
- Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenicJIMD reports · 2020Article
- Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.American journal of human genetics · 2020Article
- Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.Human mutation · 2019Article
- Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in theCold Spring Harbor molecular case studies · 2019Article
- 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
- Expanding spectrum ofEpilepsia open · 2018Article
- Distinct magnetic resonance imaging features in a patient with novelExperimental and therapeutic medicine · 2018Article
- Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.American journal of human genetics · 2017Article
- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?JIMD reports · 2017Article
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Authors and funding
15 authors at 9 institutions in 1 country.
Funding
Abstract
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations who presented perinatally with neurologic features typical of PCH6 but with additional features including cardiomyopathy, hydrops, and pulmonary hypoplasia and who died at 1 day and 14 days of age. Magnetic resonance imaging findings included marked cerebellar hypoplasia, gyral immaturity, punctate lesions in cerebral white matter, and unfused deep cerebral grey matter. Enzyme histochemistry of postmortem tissues revealed a near-global cytochrome c oxidase-deficiency; assessment of respiratory chain enzyme activities confirmed severe deficiencies involving complexes I, III, and IV. Molecular genetic studies revealed 2 RARS2 gene mutations: a c.1A>G, p.? variant predicted to abolish the initiator methionine, and a deep intronic c.613-3927C>T variant causing skipping of exons 6-8 in the mature RARS2 transcript. Neuropathologic investigation included low brain weights, small brainstem and cerebellum, deep cerebral white matter pathology, pontine nucleus neuron loss (in 1 sibling), and peripheral nerve pathology. Mitochondrial respiratory chain immunohistochemistry in brain tissues confirmed an absence of complexes I and IV immunoreactivity with sparing of mitochondrial numbers. These cases expand the clinical spectrum of RARS2 mutations, including antenatal features and widespread mitochondrial respiratory chain deficiencies in postmortem brain tissues.
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