New Insights into the Phenotype of FARS2 Deficiency

Overview

Journal Mol Genet Metab

Specialty Endocrinology

Date 2017 Nov 12

PMID 29126765

Citations 21

Authors

Elise Vantroys

Austin Larson

Marisa Friederich

Kaz Knight

Michael A Swanson

Christopher A Powell

Joel Smet

Sarah Vergult

Boel De Paepe

Sara Seneca

Herbert Roeyers

Bjorn Menten

Michal Minczuk

Arnaud Vanlander

Johan Van Hove

Rudy Van Coster

Affiliations

Soon will be listed here.

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.

Citing Articles

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