New insights into the phenotype of FARS2 deficiency.
Mol Genet Metab
; 122(4): 172-181, 2017 12.
Article
em En
| MEDLINE
| ID: mdl-29126765
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Fenilalanina-tRNA Ligase
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Paraplegia Espástica Hereditária
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Proteínas Mitocondriais
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Epilepsia
Limite:
Adolescent
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article