TABLE 1.
A review of the phenotype and genotype of patients with ACO2 gene variant based on the present studies.
| Reference | Our patients | Spiegel et al. | Metodiev et al. | — | — | Sadat et al. (2016) | Abela et al. (2017) | — | Srivastava et al. (2017) | Kelman et al. | Bouwkamp et al. (2018) | Marelli et al. | Sharkia et al. | — | — | — | Fukada et al. (2019) | Ji soo park et al. | Patrick R. et al. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No. of family | 1 | 2 | 3 | — | — | 1 | 2 | — | 1 | 1 | 1 | 1 | 5 | — | — | — | 1 | 1 | 1 |
| No. of patients | 2 | 5 + 3 | 2 | 2 | 1 | 1 | 2 | 2 | 1 | 2 | 2 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 2 |
| Onset age | 30/22 mon | 2–6 months | 5/3 years | at birth | 5 months | 5 months | NA | NA | 15 months | 2/8 years | 3/12 months | NA | 7 months | 1 day | 5 weeks | 2/12 months | 6 months | 2 months | 12/20 months |
| Current age | 19/17 years | 0.5–18 years | 41/36 years | Died at 57/61 days | 10 years | 3 years | 17/14 years | Died at 46 months | 18 years | 5/9 years | 28/14 years | 56 years | 8 years | Died at 14 years | 5 years | 8/6 years | Died at 5 years | 7 months | 12/15 years |
| Motor skills | Walk with assist | None ∼ sit | Normal | NA | Wheelchair bound | Ataxic gait | NA | NA | Wheelchair bound | Normal | Walk with assist | Walk with assist | Walk with assist | None | None | Walk alone | None ∼ sit with support | None | Impaired fine motor |
| With support | |||||||||||||||||||
| Cognitive skills | A few words | None ∼ smile | Normal | NA | Smile, recognize family | NA | NA | NA | Full sentence | Normal | A few words | Mild cognitive impairment | A few words | None | None | Some speech | None | None | Dysarthria |
| Hypotonia (69%) | + | + | − | + | + | + | + | + | + | − | − | − | + | + | + | + | + | + | − |
| Cerebellar ataxia (80%) | + | + | − | + | + | − | + | + | + | − | − | + | + | + | + | + | + | + | + |
| Seizures (78%) | + | + | − | + | − | − | + | + | + | − | +/− | − | − | + | + | + | + | + | - |
| Cortical atrophy (66%) | + | + | − | − | − | − | + | + | − | NA | − | − | − | + | + | − | + | + | + |
| Cerebellar atrophy (85%) | + | + | − | + | + | − | + | + | + | NA | + | + | − | + | + | + | + | − | + |
| Optic atrophy (85%) | + | + | + | +/− | + | - | + | + | + | + | − | + | + | + | + | − | − | + | − |
| Hearing loss (30%) | − | + | − | − | − | + | + | − | − | − | − | NA | − | − | − | − | + | − | − |
| Ethnicity | Northeast Asian | Arab | French | Algerian | NA | Afro-Caribbean | Arab | Caucasian | Mixed European | NA | Arab | Caucasian | Hispanic/Caucasian | Caucasian | Caucasian | African/Caucasian | Northeast Asian | Northeast Asian | Arab |
| Genotype | c.2303C > A | c.336C > G | c.220C > G | c.776G > A | c.2208G > C | c.2135C > T | c.336C > G | c.1859G > A | c.2328_2331delGAAG | c.220C > G | c.1240 T > G | c.2135C > T | c.260C > T | c.1181G > A | c.172C > T | c.1787A > G | c.1534G > A | c.1179G > A | c.2050C > T |
| c.85C > T | c.1981G > A | c.2328_2331delGAAG | c.1819C > T | c.2048G > T | c.1091 T > C | c.2208 + 1dup | c.940 + 5G > C | c.685–1 | c.1722G > A | c.590A > G | c.2050C > T | c.1997G > C | c.1343G > C | c.2153T > C | |||||
| — | — | — | _685delinsAA | ||||||||||||||||
| Enzyme activity | NA | 12% | 58/66% | 5% | NA | 20% | NA | NA | NA | NA | ∼20/20% | 50% | 12% | NA | NA | 75/45% of control | 15% | NA | NA |
D, days; mo, months; wk, weeks; NA, not available; +, present; −, absent.