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Table 2 Neuropathological overview of foetuses interrupted for tubulin related lissencephalies

From: Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Case number Gene Gender Nucleotidic change Proteic change TOP Cortical lamination Neuronoglial overmigration Heterotopia Olfactory bulbs agenesis Hippocampus Enlarged GZ Basal Ganglia Corpus callosum Cerebellum Pons –Braintem Ophthalmological signs Head circumference Additional morphological signs Reference
Nuclei and corticospinal tract
LIS_TUB_025 fœtus06 TUBA1A M c.787C > A p.P263T 26 Poorly differentiated CP (2–3 layers poorly individualized) - Dispersed heterotopic neurons + N + Dysmorphic c.ACC Severe Hypoplasia Severe pons hypoplasia - 5th p Absent [32]
Severe hypoplasia and Disorganization of the CST
LIS_TUB_011_ fœtus231 TUBA1A M c.1226 T > C p.V409A 32 N/A N/A N/A N/A N/A N/A N/A c.ACC Severe hypoplasia Severe pons hypoplasia N/A 5th p Absent This series
LIS_TUB_022_ fœtus05 TUBA1A M c.712A > G p.I238V 25 Poorly differentiated CP (2–3 layers poorly individualized) - Nodular heterotopia - N + Dysmorphic c.ACC Moderate Vermian Hypoplasia Severe pons hypoplasia N/A 5th p Absent [32]
Unilateral hypoplasia of the CST
LIS_TUB_018_ fœtus10 TUBA1A F c.1265G > A p.R422H 28 N/A N/A N/A N/A N/A N/A N/A c.ACC Mild Vermian Hypoplasia Mild pons hypoplasia N/A 5th p Absent This series
LIS_TUB_017 fœtus021 TUBA1A M c.1205G > A p.R402H 29 N/A N/A N/A N/A N/A N/A N/A c.ACC Mild Vermian Hypoplasia Mild pons hypoplasia N/A 5th p Absent This series
LIS_TUB_013_ fœtus14 TUBB2B F c.302G > A p.G98R 32,8 Thick 4-layered cortex - Heterotopia N/A N N/A - c.ACC Mild Vermian Hypoplasia Mild pons hypoplasia - 5th p Absent This series
LIS_TUB_021_ fœtus07 TUBA1A M c.1204C > T p.R402C 35 Thick 4-layered cortex - Radial columnar heterotopic neurons - N - - Thick CC Mild Vermian Hypoplasia Moderate pons hypoplasia N/A 5th p Absent [32]
Mild hypoplasia of the CST
  1. Abbreviations: TOP termination of the pregnancy, LIS lissencephaly, N/A not available, ACC corpus callosum agenesis, GZ germinal zones, p. percentile; 1no foetopathological data available; Foetal MRI based analysis of the phenotype; unilat: unilateral; +: Present; −: Absent; N: Normal; CP cortical plate; CST: corticospinal tract.