Features of tubulin and microtubule-associated gene mutations
| Tubulin Mutations | MAP Mutations | |||||
|---|---|---|---|---|---|---|
| TUBA1A | TUBB2B | TUBB3 | LIS1 | DCX | DYNC1H1 | |
| Dysmorphic/absent corpus callosum | 8/8a | 5/5 | 2/5 | 5/5b | 1/4 | 6/6c |
| Thin corpus callosum | 4/5 | 4/5 | 4/5 | 0/5 | 2/4 | 1/6d |
| Dysgyric cerebral cortex | 4/7e | 4/5 | 5/5 | 0/5 | 0/4 | 0/6 |
| Pachygyric/agyric cerebral cortex | 4/7e | 0/5 | 3/5 | 5/5f | 4/4g | 6/6h |
| Small cerebellar vermis | 8/8 | 5/5i | 4/5 | 2/5i | 0/4 | 3/6i |
| Small cerebellar hemisphere | 5/8 | 1/5 | 1/5j | 0/5 | 0/4 | 0/6 |
| Small brain stem | 7/8k | 5/5l | 5/5m | 3/5n | 0/3o | 3/6l |
| Large tectum | 4/8 | 1/5 | 1/5 | 0/5 | 0/4 | 0/6 |
| Mild ventriculomegaly | 1/8 | 2/5 | 0/5 | 0/5 | 0/4 | 2/6 |
| Moderate ventriculomegaly | 3/8 | 1/5 | 1/5 | 0/5 | 0/4 | 0/6 |
| Severe ventriculomegaly | 4/8 | 0/5 | 1/5 | 0/5 | 0/4 | 0/6 |
↵a Corpus callosum absent 3/8.
↵b L-shaped corpus callosum 4/5.
↵c L-shaped corpus callosum 3/6.
↵d Thick corpus callosum 5/6.
↵e In 1 patient, poor gray-white differentiation precludes accurate cortical assessment.
↵f Complete agyria 1/5; posterior agyria and anterior pachygyria 4/5.
↵g Complete agyria 1/4; anterior pachygyria 3/4.
↵h Posterior pachygyria 6/6.
↵i Small anterior vermis in all cases.
↵j Dysmorphic vermis.
↵k Asymmetric 3/8.
↵l Small pons in all cases.
↵m Asymmetric in all cases.
↵n Diffusely thin brain stem 2/5, small pons 1/5.
↵o Brain stem not well-visualized, 1 case.