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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Human mutation - 1 Oct 2017

Oprescu Stephanie N, Chepa-Lotrea Xenia, Takase Ryuichi, Golas Gretchen, Markello Thomas C, Adams David R, Toro Camilo, Gropman Andrea L, Hou Ya-Ming, Malicdan May Christine V, Gahl William A, Tifft Cynthia J, Antonellis Anthony

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in myriad dominant and recessive disease phenotypes. Glycyl-tRNA synthetase (GARS) is a bifunctional ARS that charges tRNAGly in the cytoplasm and mitochondria. GARS variants have been associated with dominant Charcot-Marie-Tooth disease but have not been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28675565
DOI: 10.1002/humu.23287
PMCID: PMC5599332

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