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Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.

Gene - 5 Feb 2024

Hu Xuyun, Guo Ruolan, Hao Chanjuan, Hao Lijuan

Abstract excerpt

BACKGROUND AND AIMS: Biallelic variants in mitochondrial prolyl-tRNA synthetase 2 (PARS2) are associated with developmental and epileptic encephalopathy-75 (DEE75), which is characterized by global developmental delay, seizures and brain imaging anomalies. To date, fewer than 20 patients with PARS2 mutation have been reported in previous literature, and only ten of them had detailed phenotype information....

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PMID: 37956963
DOI: 10.1016/j.gene.2023.147985

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