Table 2.

Central and Peripheral Nervous System Diseases Caused by Pathogenic Variants in Genes Encoding Aminoacyl-tRNA Synthetases and Aminoacyl-tRNA Synthetase Interacting Multifunctional Proteins

Cytoplasmic ARS
AARS	epileptic encephalopathy with persistent myelination defect (MIM: 616339)26
DARS	hypomyelinating leukodystrophy with brainstem involvement and leg spasticity (MIM: 615281)7
EPRS	hypomyelinating leukodystrophy
GARS	Charcot-Marie tooth disease (CMT) type 2D (MIM 601472), distal hereditary motor neuropathy 5A (MIM: 600794)27
HARS	CMT type 2W (MIM: 616625)28
KARS	AR deafness 89, recessive intermediate B (MIM: 613916),28 and Charcot Marie Tooth (CMT) Disease Type 2 (MIM: 613641)29
MARS	late-onset CMT type 2U (MIM: 616280)30
QARS	progressive microcephaly, intractable seizures and cerebral and cerebellar atrophy (MIM: 615760)31
RARS	hypomyelinating leukodystrophy6 (MIM: 616140)
YARS	CMT dominant intermediate C (MIM: 6088323)32
Mitochondrial ARS
AARS2	(ovario) leukodystrophy and combined oxidative phosphorylation deficiency (MIM: 615889)33
DARS2	leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (MIM: 611105)34
EARS2	leukoencephalopathy with thalamus and brainstem involvement with high lactate (MIM: 614924)35
FARS2	alpers encephalopathy (MIM: 614946)36
HARS2	perrault syndrome (MIM: 614926)37
MARS2	autosomal recessive spastic ataxia with leukoencephalopathy (MIM: 611390)38
RARS2	pontocerebellar hypoplasia type 6 (MIM: 611523)39
TARS2	mitochondrial encephalopathy (combined oxidative phosphorylation deficiency 21) (MIM: 615918)40
VARS2	mitochondrial encephalopathy (combined oxidative phosphorylation deficiency 20) (MIM: 615917)40
tRNA Synthetase Cofactor Gene
AIMP1	hypomyelination secondary to neuronal disorder (MIM: 260600)25
AIMP2	hypomyelination secondary to neuronal disorder41

Underlined genes are the genes associated with hypomyelination.