Ontology highlight
ABSTRACT:
SUBMITTER: Friedman J
PROVIDER: S-EPMC6372641 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Nature communications 20190212 1
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases. VARS encodes the only known valine cytoplasmic-localized aminoacyl-tRNA synthetase. Here, we report seven patients from five unrelated families with five different biallelic missense variants in VARS. Subjects present with a range of global devel ...[more]