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Article

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

Molecular genetics and metabolism - 1 Nov 2023

Chen Wenqian, Rehsi Preeya, Thompson Kyle, Yeo Mildrid, Stals Karen, He Langping, Schimmel Paul, Chrzanowska-Lightowlers Zofia M A, Wakeling Emma, Taylor Robert W, Kuhle Bernhard

Abstract excerpt

FARS2 encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS), which is essential for charging mitochondrial (mt-) tRNAPhe with phenylalanine for use in intramitochondrial translation. Many biallelic, pathogenic FARS2 variants have been described previously, which are mostly associated with two distinct clinical phenotypes; an early onset epileptic mitochondrial encephalomyopathy or a later onset spastic...

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Identifiers

PMID: 37523899
DOI: 10.1016/j.ymgme.2023.107657

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