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. Author manuscript; available in PMC: 2012 Jun 1.
Published in final edited form as: Curr Opin Genet Dev. 2011 Feb 1;21(3):286–294. doi: 10.1016/j.gde.2011.01.003
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