Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

A large-scale mutation screen of some genes encoding aminoacyl-tRNA synthetases (ARSs) in patients with Charcot-Marie-Tooth (CMT) disease characterized by peripheral neuropathy is undertaken to explore the role of ARSs in CMT disease. Results reveal that multiple mutations of the lysyl-tRNA synthetase (KARS) gene belonging to the ARS gene family, which severely affect related enzyme activity, are found in a single patient with CMT.