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FARS2 Deficiency.
Almannai M, Faqeih E, El-Hattab AW, Wong LJC. Almannai M, et al. 2019 Mar 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Mar 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 30869852 Free Books & Documents. Review.
To date FARS2 deficiency has been reported in 37 individuals from 25 families. ...All affected individuals have spastic paraplegia manifested by weakness, spasticity, and exaggerated reflexes of the lower extremities associated with walking difficulties; some have developm …
To date FARS2 deficiency has been reported in 37 individuals from 25 families. ...All affected individuals have spastic paraplegia ma …
FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
Li B, Liu F, Chen X, Chen T, Zhang J, Liu Y, Yao Y, Hu W, Zhang M, Wang B, Liu L, Chen K, Wu Y. Li B, et al. Circulation. 2024 Apr 16;149(16):1268-1284. doi: 10.1161/CIRCULATIONAHA.123.064489. Epub 2024 Feb 16. Circulation. 2024. PMID: 38362779 Free PMC article.
Several variants of FARS2 have been suggested to cause neurological disorders; however, FARS2-associated diseases involving other organs have not been reported. ...Fars2 conditional mutant (p.R415L) or knockout mice, fars2-knockdown zebrafish, and F …
Several variants of FARS2 have been suggested to cause neurological disorders; however, FARS2-associated diseases involving ot …
Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.
Chen X, Liu F, Li B, Wang Y, Yuan L, Yin A, Chen Q, Hu W, Yao Y, Zhang M, Wu Y, Chen K. Chen X, et al. Cell Biosci. 2022 Jul 6;12(1):103. doi: 10.1186/s13578-022-00838-y. Cell Biosci. 2022. PMID: 35794642 Free PMC article.
As a member of mt-aaRSs genes, FARS2 missense homozygous mutation c.424G > T (p.D142Y) found in a Chinese consanguineous family first built the relationship between pure hereditary spastic paraplegia (HSP) and FARS2 gene. ...Delayed development of neurite outgrow …
As a member of mt-aaRSs genes, FARS2 missense homozygous mutation c.424G > T (p.D142Y) found in a Chinese consanguineous family fi …
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC. Cho JS, et al. Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2. Epilepsy Res. 2017. PMID: 28043061 Review.
Here, we report a novel homozygous c.925G>A (G309S) missense mutation in the gene that encodes the human mitochondrial phenylalanyl-tRNA synthetase (FARS2) in four patients from two nonconsanguineous Korean families. ...An etiologic investigation, including brain imagin …
Here, we report a novel homozygous c.925G>A (G309S) missense mutation in the gene that encodes the human mitochondrial phenylalanyl-tRNA …
FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism.
Fan W, Jin X, Xu M, Xi Y, Lu W, Yang X, Guan MX, Ge W. Fan W, et al. Nucleic Acids Res. 2021 Dec 16;49(22):13108-13121. doi: 10.1093/nar/gkab1187. Nucleic Acids Res. 2021. PMID: 34878141 Free PMC article.
Here, we develop a Drosophila model to study the function of dFARS2, the Drosophila homologue of the mitochondrial phenylalanyl-tRNA synthetase, and further characterize human disease-associated FARS2 variants. Inactivation of dFARS2 in Drosophila leads to developmental de …
Here, we develop a Drosophila model to study the function of dFARS2, the Drosophila homologue of the mitochondrial phenylalanyl-tRNA synthet …
Phenotypic spectrum of FARS2-deficiency.
Finsterer J, Scorza CA, Scorza FA. Finsterer J, et al. Mol Genet Metab Rep. 2017 Dec 21;14:41-42. doi: 10.1016/j.ymgmr.2017.11.003. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29326872 Free PMC article. No abstract available.
FARS2 Mutations: More Than Two Phenotypes? A Case Report.
Hotait M, Nasreddine W, El-Khoury R, Dirani M, Nawfal O, Beydoun A. Hotait M, et al. Front Genet. 2020 Jul 22;11:787. doi: 10.3389/fgene.2020.00787. eCollection 2020. Front Genet. 2020. PMID: 32774346 Free PMC article.
FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. ...
FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct …
FARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS).
Guerrero CM, Bhatia S. Guerrero CM, et al. J Pediatr Neurosci. 2021 Oct-Dec;16(4):323-326. doi: 10.4103/jpn.JPN_207_20. Epub 2021 Oct 11. J Pediatr Neurosci. 2021. PMID: 36531778 Free PMC article.
However, an EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old male with seizures where whole exome sequencing (WES) revealed pathogenic FARS2 variants and an EIMFS pattern on EEG. ...We encourage …
However, an EIMFS-like pattern on EEG in FARS2 deficiency has only recently been reported once. Herein, we describe a seven-week-old …
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Eur J Hum Genet. 2021 Mar;29(3):533-538. doi: 10.1038/s41431-020-00757-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168986 Free PMC article.
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 …
Compound heterozygous or homozygous missense and frameshift variants in the FARS2 gene, that encodes the mitochondrial phenylalanyl-t …
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Vernon HJ, McClellan R, Batista DA, Naidu S. Vernon HJ, et al. Am J Med Genet A. 2015 May;167A(5):1147-51. doi: 10.1002/ajmg.a.36993. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25851414
Associated clinical features in three previously reported patients with confirmed FARS2 mutations include infantile onset epilepsy, and a fatal Alpers-like encephalopathy. ...This interstitial deletion includes all of exon 6 and parts of introns 5 and 6 of FARS2. Bi …
Associated clinical features in three previously reported patients with confirmed FARS2 mutations include infantile onset epilepsy, a …
45 results