Table 1.
Clinical features of the patients in comparison to the previous DNM1L report
| Sequencing findings | Case reported by: Waterham et al. (23) |
Patient 1 | Patient 2 |
|---|---|---|---|
| DNM1L: c.1184C>A (p.A395D) | DNM1L: c.1048G>A (p.G350R) |
DNM1L: c.1135G>A (p.E379K) PDHA 1 c.448G>A (p.G150R) |
|
| Decreased fetal movements | + | − | − |
| Poor feeding | + | + | + |
| Poor growth | + | − | + |
| Developmental delay | + | + | + |
| Developmental regression | N/A | + | − |
| Lactic acidosis | + | + | + |
| Seizures | − | + | − |
| Hypotonia | + | + | + |
| Deep-set eyes | + | − | − |
| Pointed chin | + | − | − |
| Downslanting palpebral fissures | − | − | + |
| Microcephaly | + | − | + |
| Horizontal nystagmus | + | + | − |
| No response to light stimulation | + | − | − |
| Optic discs pale and cupped | + | − | − |
| Optic nerve hypoplasia | − | − | + |
| MRI: abnormal gyral pattern in frontal lobes | + | − | + |
| MRI: dysmyelination | + | − | + |
| Corpus callosum abnormality | − | Thinned | Agenesis |
| Ventriculomegaly | − | + | + |
| Hydrocephalus | − | − | + |
| Very long chain fatty acids | Elevated | Normal | Unknown |
| Age of onset | 4 days | 5 months | Birth |
| Survival | 37 days | 5 years | 11 months |