Table 9.

Pathologies resulting from mutations in Coenzyme Q genes and their yeast homologs.

Human Gene	Yeast Gene	Clinical Phenotype	Mutation	Confirmation in Yeast	Reference
PDSS1	COQ1	infantile multisystemic disease	homozygous D308E	yes	[261]
PDSS2	COQ1	infantile multisystemic disease, SRNS, LS, hepatocellular carcinoma	compound heterozygous Q322*, S382L	yes	[262]
COQ2	COQ2	SRNS, SRNS with encephalomyopathy resembling MELAS, fatal infantile multisystemic disease	homozygous Y297C	yes	[268]
COQ4	COQ4	LS, cerebellar atrophy, lactic acidosis, etc.	many		[263,269,270] 1
COQ5	COQ5	cerebellar ataxia, dysarthria, myoclonic jerks	biallelic 9590 bp duplication	no	[250]
COQ6	COQ6	SRNS, infantile multisystemic disease	many		[264] 1
COQ7	COQ7	spasticity, sensorineural hearing loss etc.	homozygous V141E; homozygous L111P; compound heterozygous R107W, K200Ifs*56 2	no	[272,273,274]
COQ8A	COQ8	ARCA, seizures, dystonia, spasticity	many		[248] 1
COQ8B	COQ8	SRNS	many		[248,276] 1
COQ9	COQ9	infantile multisystemic disease, Leigh-like Syndrome, microcephaly	many		See main text

¹ Review describing many mutations. ² In different patients.