. Author manuscript; available in PMC: 2022 Apr 1.

Published in final edited form as: FEBS Lett. 2020 Dec 22;595(8):1025–1061. doi: 10.1002/1873-3468.14024

Table 2. Mutations in mitoribosome assembly factors associated with human mitochondrial disorders.

MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. VACTERL, vertebral anomalies, anal atresia, cardiovascular anomalies, trachea-esophageal fistula, esophageal atresia, renal or radial anomalies, or limb defects. OXPHOS, oxidative phosphorylation. SNP, single nucleotide polymorphism. PEO, progressive external ophtalmoplegia.

Gene	Mutation	Clinical Manifestations	Ref.
*rRNA processing and stability defects*
*TRNT10C*	Compound heterozygous c.542G>T, (p.R181L) c.814A>G, (p.T272A) Homozygous c.542G>T, (p.R181L)	-Lactic acidosis -Hypotonia -Feeding problems -Deafness -Defect in RNA processing -Multiple OXPHOS deficiency	[173]
*HSD17B10*	Hemizygous X:g.53458504T>C, (p.K212E)	-Lactic acidosis -Intractable epilepsy -Global developmental delay -Static encephalopathy -Optic atrophy and blindness -Global tRNA processing and maturation	[178]
ELAC2 (RNAse Z)	Compound heterozygous c.631C>T, (p.Arg211*) c.1559C>T, (p.Thr520Ile) Homozygous c.460T>C, (p.Phe154Leu) c.1267C>T, (p.Leu423Phe)	-Hypertrophic cardiomyopathy -Lactic acidosis -Complex I deficiency	[165]
ELAC2 (RNAse Z)	Homozygous and heterozygous mutations	Early-onset hypertrophic or dilatated cardiomyopathy	[168]
*FASTKD2*	Homozygous c.1246C>T, (p.Arg416*)	-Early-onset developmental delay -Mitochondria encephalomyopathy -Isolated complex IV deficiency in muscle	[180]
	Compound heterozygous c.613C > T, (p.Arg205Stop) c.764 T >C, (p.Leu255Pro)	-MELAS-like syndrome	[181]
	Compound heterozygous c.868C>T, (p.R290) c.1859delT, (p.S621Lfs14)	-MELAS-like syndrome -Cerebral atrophy	[182]
	Homozygous: c.808_809ins, (p.L270fs11) c.868C>T, (p.R290)	-Early-onset mitochondrial encephalomyopathy -Lactic acidosis -Hypertrophic cardiomyopathy -Multiple OXPHOS deficiency	[182]
*rRNA maturation defects*
*MRM2*	Homozygous: c.567G>A, (p.Gly189Arg)	-MELAS	[183]
*TFB1M*	In combination with12S rRNA mutation A1555G	-Hearing loss	[127]
*TFB1M*	SNP (rs950994)	-Risk factor in type 2 diabetes	[185] [186]
*Assembly chaperoning defects*
*ERAL1*	Homozygous c.707A>T, (p.Asn236Ile)	-Perrault syndrome	[189]
*CLPP*	Homozygous and heterozygous mutations	-Perrault syndrome	[190] [191]
*C1QBP/p32*	Compound heterozygous c.557G>C, (p.Cys186Ser) c.612C>G, (p.Phe204Leu) c.739G>T, (p.Gly247Trp) c.824T>C, (p.Leu275Pro) Homozygous c.823C>T, (p.Leu275Phe) c.562_564delTAT, (p.Tyr188del)	-Cardiac manifestation -PEO -Combined CI, CIII and CIV OXPHOS deficiency	[193]
*DHX30*	c.1478G>A, (p.Arg493His) c.1685A>G, (p.His562Arg) c.2342G>A, (p.Gly781Asp) c.2344C>T, (p.Arg782Trp) c.2353C>T, (p.Arg785Cys) c.2354G>A, (p.Arg785His)	-Neurodevelopmental disorder -Accumulation of cytosolic stress RNA granule	[196]
*GTPBP5*	0.7 Mb deletion in 20q13.33	-VACTERL	[196]