New insights into the phenotype of FARS2 deficiency.
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ABSTRACT:
SUBMITTER: Vantroys E
PROVIDER: S-EPMC5734183 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
New insights into the phenotype of FARS2 deficiency.
Vantroys Elise E Larson Austin A Friederich Marisa M Knight Kaz K Swanson Michael A MA Powell Christopher A CA Smet Joél J Vergult Sarah S De Paepe Boel B Seneca Sara S Roeyers Herbert H Menten Björn B Minczuk Michal M Vanlander Arnaud A Van Hove Johan J Van Coster Rudy R
Molecular genetics and metabolism 20171012 4
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 functio ...[more]
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