Multiple missense mutations of EPRS1 gene have been reported in humans, including compound heterozygous mutations of P14R and E205G in two patients with diabetes and bone diseases [28], the single heterozygous mutations R838H and Y791C in two sporadic cases of Parkinson’s disease [29], and five bi-allelic mutations in four patients with hypomyelinating leukodystrophy [30]. The gene discussed is EPRS1; the disease is leukodystrophy.