Ontology highlight
ABSTRACT:
SUBMITTER: Williams KB
PROVIDER: S-EPMC6360277 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Williams Katie B KB Brigatti Karlla W KW Puffenberger Erik G EG Gonzaga-Jauregui Claudia C Griffin Laurie B LB Martinez Erick D ED Wenger Olivia K OK Yoder Mark A MA Kandula Vinay V R VVR Fox Michael D MD Demczko Matthew M MM Poskitt Laura L Furuya Katryn N KN Reid Jeffrey G JG Overton John D JD Baras Aris A Miles Lili L Radhakrishnan Kadakkal K Carson Vincent J VJ Antonellis Anthony A Jinks Robert N RN Strauss Kevin A KA
Human molecular genetics 20190201 4
Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven related children homozygous for a novel mutation in tyrosyl-tRNA synthetase (YARS, c.499C > A, p.Pro167Thr) identified by whole exome sequencing. This variant lies within a highly conserved interface required for protein homodimerization, an essential s ...[more]