Table 1.
Clinical features of patients with the recurrent p.(Arg2His) TUBA1A mutation.
| Patient | 1 | 2 | 3 | 4 (fetus) |
|---|---|---|---|---|
| Sex | Male | Male | Male | Male |
| OFC at Birth | 30 cm (−3.6 SD) | 34 cm (−0.9 SD) | 33 cm (−1.7 SD) | n/a |
| Age at last review | 4 years | 32 months | 37 months | TOP at 36 weeks gestation |
| Last OFC | 45 cm (−4.9 SD) | 43 cm (−5.9 SD) | 45 cm (−4.6 SD) | n/a |
| Developmental delay | Moderate | Severe | Moderate | n/a |
| Seizures | Yes (onset at 3 years) | Yes (onset at 12 months) | No | n/a |
| Cerebral cortex | Bilateral perisylvian polymicrogyria | Normal | Normal | Bilateral perisylvian polymicrogyria |
| White matter | Reduced | Reduced | Reduced | n/k |
| Corpus callosum | Partial agenesis | Thin | Thin | Short, no rostrum |
| Basal ganglia | Dysmorphic, prominent | Dysmorphic, prominent | Dysmorphic, prominent | n/k |
| Cerebellum | Hypoplasia and dysplasia of vermis | Hypoplasia and dysplasia of vermis | Hypoplasia and dysplasia of vermis | Hypoplasia, Impaired lamination, rare and misaligned Purkinje |
| Brainstem | Small pons | Small pons | Small pons | Neuronal heterotopia of olivary nuclei and hypoplastic pyramids |
Key: n/a/k = not applicable/known; OFC = occipital frontal circumference; PMG = polymicrogyria; SD = standard deviations; TOP = termination of pregnancy.