Correlation Engine 2.0
Clear Search sequence regions

Sizes of these terms reflect their relevance to your search.

Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and mitochondrial diseases with variable clinical presentations. Compound heterozygous or homozygous missense and frameshift variants in the FARS2 gene, that encodes the mitochondrial phenylalanyl-tRNA synthetase, are commonly linked to either early-onset epileptic mitochondrial encephalopathy or spastic paraplegia. Here, we expand the genetic spectrum of FARS2-linked disease with three patients carrying novel compound heterozygous variants in the FARS2 gene and presenting with spastic tetraparesis, axial hypotonia and myoclonic epilepsy in two cases.


Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D Metodiev, Benedetta Ruzzenente. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. European journal of human genetics : EJHG. 2021 Mar;29(3):533-538

Expand section icon Mesh Tags

Expand section icon Substances

PMID: 33168986

View Full Text