New insights into the phenotype of FARS2 deficiency.

TitleNew insights into the phenotype of FARS2 deficiency.
Publication TypeJournal Article
Year of Publication2017
AuthorsVantroys, E, Larson, A, Friederich, M, Knight, K, Swanson, MA, Powell, CA, Smet, J, Vergult, S, De Paepe, B, Seneca, S, Roeyers, H, Menten, B, Minczuk, MA, Vanlander, A, Van Hove, J, Van Coster, R
JournalMol Genet Metab
Date Published2017 Oct 12
ISSN1096-7206
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.

DOI10.1016/j.ymgme.2017.10.004
Alternate JournalMol. Genet. Metab.
Citation Key10.1016/j.ymgme.2017.10.004
PubMed ID29126765