Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

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) methyl...

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Veröffentlicht in:Journal of molecular neuroscience 2020-12, Vol.70 (12), p.1962-1965
Hauptverfasser: Paramasivam, Arumugam, Meena, Angamuthu K., Venkatapathi, Challa, Pitceathly, Robert D.S., Thangaraj, Kumarasamy
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Sprache:eng
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Zusammenfassung: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.421G>C (p.A141P) and c.454T>A (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.
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-020-01595-8