Features of tubulin and microtubule-associated gene mutations

Tubulin MutationsMAP Mutations
Dysmorphic/absent corpus callosum8/8a5/52/55/5b1/46/6c
Thin corpus callosum4/54/54/50/52/41/6d
Dysgyric cerebral cortex4/7e4/55/50/50/40/6
Pachygyric/agyric cerebral cortex4/7e0/53/55/5f4/4g6/6h
Small cerebellar vermis8/85/5i4/52/5i0/43/6i
Small cerebellar hemisphere5/81/51/5j0/50/40/6
Small brain stem7/8k5/5l5/5m3/5n0/3o3/6l
Large tectum4/81/51/50/50/40/6
Mild ventriculomegaly1/82/50/50/50/42/6
Moderate ventriculomegaly3/81/51/50/50/40/6
Severe ventriculomegaly4/80/51/50/50/40/6
  • 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.