Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
| Autor: | Challa Venkatapathi, Kumarasamy Thangaraj, Arumugam Paramasivam, Robert D S Pitceathly, Angamuthu K. Meena |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Mitochondrial encephalomyopathy
Male medicine.medical_specialty Neurology business.industry Mutation Missense Correction Brain General Medicine Methyltransferases Bioinformatics medicine.disease Pedigree Cellular and Molecular Neuroscience Phenotype Mitochondrial Encephalomyopathies Seizures medicine Humans Neurochemistry Female business Early onset |
| Zdroj: | Journal of Molecular Neuroscience |
| ISSN: | 1559-1166 0895-8696 |
| Popis: | Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in NSUN3, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency. Here, we report a patient with early-onset mitochondrial encephalomyopathy and seizures in whom the novel biallelic NSUN3 missense variants c.421GC (p.A141P) and c.454TA (p.C152S) were detected. Segregation studies and in silico functional analysis confirmed the likely pathogenic effects of both variants. These findings expand the molecular and phenotypic spectrum of NSUN3-related mitochondrial disease. |
| Databáze: | OpenAIRE |
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