Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

Autor: Barcia G; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France., Rio M; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Assouline Z; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France., Zangarelli C; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Roux CJ; Department of Pediatric Radiology, INSERM UMR 1163, INSERM U1000, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., de Lonlay P; Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, INEM-1151, G2M, MetabERN, Paris, France., Steffann J; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Desguerre I; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France., Munnich A; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Bonnefont JP; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, Paris, France.; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, INSERM UMR 1163, INSERM U1000, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France., Rötig A; French Reference Center for Mitochondrial Diseases (CARAMMEL), Paris, France.; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Metodiev MD; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Ruzzenente B; Laboratory for Genetics of Mitochondrial Disorders, UMR U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. benedetta.ruzzenente@inserm.fr.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Mar; Vol. 29 (3), pp. 533-538. Date of Electronic Publication: 2020 Nov 09.
DOI: 10.1038/s41431-020-00757-x
Abstrakt: 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.
Databáze: MEDLINE
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