TY  - INPR
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KW  - Epitranscriptomics
KW  -  Mitochondrial disorders
KW  -  mtDNA
KW  -  NSUN3
KW  -  Encephalomyopathy
KW  -  Seizures
A1  - Paramasivam, A
A1  - Meena, AK
A1  - Venkatapathi, C
A1  - Pitceathly, RDS
A1  - Thangaraj, K
PB  - HUMANA PRESS INC
JF  - Journal of Molecular Neuroscience
TI  - Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
Y1  - 2020/06/02/
AV  - public
N2  - 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.
UR  - https://doi.org/10.1007/s12031-020-01595-8
EP  - 4
ID  - discovery10105386
ER  -