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New insights into the phenotype of FARS2 deficiency

Elise Vantroys UGent, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet UGent, Sarah Vergult UGent, Boel De Paepe UGent, Sara Seneca, et al. (2017) MOLECULAR GENETICS AND METABOLISM. 122(4). p.172-181
abstract
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a compound heterozygous state. The missense mutation c.1082C > T (p.Pro361Leu) was detected in both patients. The mutations c.461C > T (p.Ala154Val) and c.521_523delTGG (p.Val174del) were each detected in one patient. We report abnormal in vitro aminoacylation assays as a functional validation of the molecular genetic findings. Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
FARS2, Mitochondria, Mitochondrial aminoacyl-tRNA synthetase, Early-onset epileptic encephalopathy, Hereditary spastic paraplegia, Neurogenic bladder, TRANSFER-RNA SYNTHETASE, C-OXIDASE DEFICIENCY, RESPIRATORY-CHAIN, LEIGH-SYNDROME, MUTATIONS, DISEASE, ENCEPHALOPATHY, DISORDERS, DIAGNOSIS, EPILEPSY
journal title
MOLECULAR GENETICS AND METABOLISM
Mol. Genet. Metab.
volume
122
issue
4
pages
172 - 181
Web of Science type
Article
Web of Science id
000418879000005
ISSN
1096-7192
DOI
10.1016/j.ymgme.2017.10.004
language
English
UGent publication?
yes
classification
A1
copyright statement
Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
id
8542664
handle
http://hdl.handle.net/1854/LU-8542664
date created
2017-12-20 09:23:27
date last changed
2018-03-19 11:04:38
@article{8542664,
  abstract     = {Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a compound heterozygous state. The missense mutation c.1082C {\textrangle} T (p.Pro361Leu) was detected in both patients. The mutations c.461C {\textrangle} T (p.Ala154Val) and c.521\_523delTGG (p.Val174del) were each detected in one patient. We report abnormal in vitro aminoacylation assays as a functional validation of the molecular genetic findings. Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype.},
  author       = {Vantroys, Elise and Larson, Austin and Friederich, Marisa and Knight, Kaz and Swanson, Michael A and Powell, Christopher A and Smet, Jo{\'e}l and Vergult, Sarah and De Paepe, Boel and Seneca, Sara and Roeyers, Herbert and Menten, Bj{\"o}rn and Minczuk, Michal and Vanlander, Arnaud and Van Hove, Johan and Van Coster, Rudy},
  issn         = {1096-7192},
  journal      = {MOLECULAR GENETICS AND METABOLISM},
  keyword      = {FARS2,Mitochondria,Mitochondrial aminoacyl-tRNA synthetase,Early-onset epileptic encephalopathy,Hereditary spastic paraplegia,Neurogenic bladder,TRANSFER-RNA SYNTHETASE,C-OXIDASE DEFICIENCY,RESPIRATORY-CHAIN,LEIGH-SYNDROME,MUTATIONS,DISEASE,ENCEPHALOPATHY,DISORDERS,DIAGNOSIS,EPILEPSY},
  language     = {eng},
  number       = {4},
  pages        = {172--181},
  title        = {New insights into the phenotype of FARS2 deficiency},
  url          = {http://dx.doi.org/10.1016/j.ymgme.2017.10.004},
  volume       = {122},
  year         = {2017},
}

Chicago
Vantroys, Elise, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet, et al. 2017. “New Insights into the Phenotype of FARS2 Deficiency.” Molecular Genetics and Metabolism 122 (4): 172–181.
APA
Vantroys, E., Larson, A., Friederich, M., Knight, K., Swanson, M. A., Powell, C. A., Smet, J., et al. (2017). New insights into the phenotype of FARS2 deficiency. MOLECULAR GENETICS AND METABOLISM, 122(4), 172–181.
Vancouver
1.
Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, et al. New insights into the phenotype of FARS2 deficiency. MOLECULAR GENETICS AND METABOLISM. 2017;122(4):172–81.
MLA
Vantroys, Elise, Austin Larson, Marisa Friederich, et al. “New Insights into the Phenotype of FARS2 Deficiency.” MOLECULAR GENETICS AND METABOLISM 122.4 (2017): 172–181. Print.