Table 1.
Clinical summary of Patients 1–4 reported in this study and the previously reported patients carrying pathogenic mutations in C12orf65
| Clinical presentation of patients presented in this study |
|||||||||
|---|---|---|---|---|---|---|---|---|---|
| Onset/alive or died† |
Optic atrophy |
Neuropathy | Pyramidal signs |
Ophthalmoparesis | Ataxia | Cognitive dysfunction |
Biochemical markers |
Mutation | |
| Patient 1 | 5y/13y | +(5y) | +++ | ++ | ++ | + | + | Complex I, II/III, IV defect in muscle | Homozygous p.Pro34Ilefs*25 |
| mtDNA depletion(10% of normal) | |||||||||
| Patient 2 | 6y/7y | +(6y) | + | + | + | + | − | n.d. | |
| Patient 3 | 6y/22y | +(6y) | +++ | ++ | − | − | + | Complex IV defect in muscle | Homozygous p.Pro34Ilefs*25 |
| mtDNA depletion(10% of normal) | |||||||||
| Patient 4 | 5y/16y | +(5y) | +++ | ++ | − | + | + | n.d. | Homozygous c.282 G>A (splice site alteration) |
|
| |||||||||
| Clinical presentation of previously reported patients |
|||||||||
| Antonicka et al. P1 | 1y/8y† | ++(5y) | ? | ? | ++ | ++ | + | Complex I, IV, V defect in fibroblasts | Homozygous p.Val83Glyfs*1 |
| Antonicka et al., P2 | 15 m/20y | + | ++ | − | ++ | ? | ? | n.d. | Homozygous p.Gly72Alafs*12 |
| Antonicka et al., P3 | 3y/22y† | +(3y) | ++ | ? | ++ | − | ? | n.d. | |
| Shimazaki et al., P1 | 7y/32y | +(7y) | + | + | − | − | − | Complex I, IV defect in fibroblasts | Homozygous p.Arg132* |
| Shimazaki et al., P2 | 7y/42y | +(7y) | ++ | ++ | − | − | − | n.d. | |
| Buchert et al., P1 | ?/27y | − | +deformed hands, feet | ? | + | ? | + | n.d. | Homozygous p.Gln139* |
| Buchert et al., P2 | ?/24y | − | ? | ? | + | ? | + | n.d. | |
| Tucci et al., P1 | 8y/34y | + | + | + | + | ? | + | n.d. | Homozygous p.Val1 16* mutation |
| Tucci et al., P2 | childhood/53y | + | + | + | ? | ? | + | n.d. | |
| Tucci et al., P3 | childhood/51y | + | + | + | ? | ? | + | Complex V defect in lymphoblasts, mitochondrial membrane potential↓ | |
| Heidary et al., P1 | childhood/8y | + | ? | + | + | + | + | Complex IV defect in muscle | Compound heterozygous p.Pro34Ilefs*25 and p.Gly72Alafs*12 |
| Heidary et al., P2 | childhood/5y† | + | ? | + | + | + | + | Complex IV defect in muscle | |
| Spiegel et al., F1 | childhood/? | + | + | + | − | − | − | n.d. | Homozygous p.Lys138Argfs*16 |
| Spiegel et al., F2 | childhood/? | + | + | + | − | − | + | Complex I and IV deficiency in muscle | Homozygous c.282+ 2T>A (splice site alteration) |