Table 2 COQ2 mutations previously found in primary CoQ10 deficiency-1
# | Amino acid change | Age at onset | Age at death | Clinical phenotype | Reference |
|---|---|---|---|---|---|
1 | p.S109N/p.S109N | 3 week | 5 month | Seizures, hypertrophic cardiomegaly, nephrotic syndrome | [5] |
2 | p.S146N/p.S146N | 5 day | 6 month | Nephrotic syndrome, seizures, encephalopathy, hypotonia, respiratory failure | [6] |
3 | p.S146N/p.S146N | Not-available | Not-available | Not available | [7] |
4 | p.S146N/p.R387X | birth | 2 month | Respiratory failure, lactic acidosis, hypertrophic cardiomyopathy, necrotizing enterocolitis, encepharopathy | [8] |
5 | p.R197H/p.N228S | 18 month | alive at 29 month | Nephrotic syndrome, generalized edema | [6] |
6 | p.N228S/p.L234fsX247 | 24 month | Not-available | Nephrotic syndrome, acute renal failure | [9] |
7 | p.T297C/p.T297C (proband) | 12 month | alive at 33 month | Nephrotic syndrome, hypotonia, optic atrophy, psychomotor regression, seizures, hemiplegia | [10] |
8 | p.T297C/p.T297C (sister) | 9 month | Not-available | Nephrotic syndrome | [10] |
9 | p.A302V/p.A302V (twin, male) | birth | 6 month | Respiratory failure, generalized edema, seizures, hypotonia, dystonic-hyper kinetic movement, lactic acidosis, retinopathy | [11] |
10 | p.A302V/p.A302V (twin, female) | birth | 5 month | Respiratory failure, generalized edema, seizures, hypotonia, dystonic-hyper kinetic movement, lactic acidosis, intracranial hemorrhage | [11] |
11 | p.N401fsX15/p.N401fsX15 | birth | 12 day | Neurologic distress, liver failure, nephrotic syndrome, pancytopenia, diabetes, cytolysis, seizures, lactic acidosis | [12] |