Tubulin Isotype | TUBA1A | TUBB2B | TUBB3 (a) | TUBB3 (b) | |
---|---|---|---|---|---|
Number of reported mutations |
25 missense | 5 missense | 6 missense | 8 missense | |
Phenotypic Spectrum | Clinical Disorder | Severe LIS to MCD | PMG | MCD | Axon gudiance disorder, CFEOM3 |
Intellectual and Social Disability | Generally severe | Generally severe | Mild to severe | Normal to moderate, mutation dependent | |
Head Circumference | Most microcephalic | Microcephalic | <3% to 50% | Generally normal, mutation dependent | |
Epilepsy | Can be present | Can be present | Can be present | Absent | |
Strabismus | Comitant to absent | Not indicated | Comitant to absent | Incomitant (CFEOM3) to rarely absent, mutation dependent | |
Degenerative peripheral neuropathy | No | No | No | Yes, mutation dependent | |
Fetopsy and/or MRI neuroimaging data | Published fetopsy | Yes | Yes | Yes | No |
Cortex | Complete Agyria to Mild Gyral Malformation | Bilateral to Assymetric Polymicrogyria | Lissencephaly to Gyral Disorganization | Generally normal | |
Major Cortical Location | Diffuse, Posterior, Perisylvian, or Frontal | Frontal, Parietal, and Temporal lobes | Perisylvian to Frontoparietal | NA | |
Corpus Callosum | Agenesis to mild dysgenesis, Probst bundles reported | Agenesis to mild dysgenesis | Agenesis to normal | Agenesis to normal; Probst bundles reported | |
Evidence of primary axon guidance defect | Possibly | No | Yes | Yes | |
Basal Ganglia appearance | Dysmorphic to normal | Dysmorphic to normal | Dysmorphic to normal | Dysmorphic to normal | |
Cerebellum | Vermis > generalized hypoplasia, occasionally normal | Vermis > generalized hypoplasia | Vermis > generalized hypoplasia | Mild dysplasia to normal | |
Gross Brainstem appearance | Hypoplasia to normal | Hypoplasia to normal | Hypoplasia to Normal | Normal |
LIS = Lissencephaly; MCD = Malformations of Cortical Development; PMG = Polymicrogyria; CFEOM3 = Congenital Fibrosis of the Extraocular Muscle type 3