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Table 3 Neuropathology overview of foetuses interrupted for polymicrogyria like cortical dysplasia

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 Nuclei and Corticospinal tract Ophthalmological signs Head circumference Additional morphological signs Reference
LIS_TUB_012_ fœtus22 TUBA1A F c.214 C > T p.P72S 37,8 Unlayered Generalized and Asym PMG (fronto-central predominant) - Nodular Heterotopia N/A N N/A N/A HypoCC Severe Severe pons hypoplasia N/A 5th p Absent This series
Vermian Hypoplasia
Mild hypoplasia of the CST
LIS_TUB_043_foetus11 TUBA1A M c.641G > A p.R214H 23 Unlayered Central and Asym PMG Focal + unilat N/A - N c.ACC Mild Vermian Hypoplasia Mild dysplasic olivary nuclei N/A 10th p Absent This series
Unilateral hypoplasia of the CST
LIS_TUB_048_foetus16 TUBB2B M c.742G > A p.A248T 28,5 Unlayered Central and Asym-multifocal PMG - Dispersed heterotopic neurons + N/A N/A N N Mild Vermian Hypoplasia Normal   5th p Absent This series
LIS_TUB_053_foetus21 TUBA1A F c.473C > T p.S158L 24,5 Unlayered Generalized and AsymPMG - Radial columnar heterotopic neurons + Dysmorphic + Hypoplasic c.ACC Severe Hypoplasia and Dysplasia Hypoplasia Olivar heterotopia - 5th p Absent This series
Disorganized CST
LIS_TUB_054_foetus15 TUBB2B M c.518C > T p.P173L 25 Unlayered Generalized and AsymPMG (central regions) - - N/A N/A N/A Dysmorphic c.ACC Moderate hypoplasia Severe pons hypoplasia N/A <3rd p Absent This series
Disorganized CST
LIS_TUB_056_foetus12 TUBB2B M c.514 T > C p.S172P 27 Unlayered Generalized and Asym PMG (fronto-central predominant) Focal Radial columnar heterotopic neurons - N - N c.ACC Mild Vermian Dysplasia Normal N/A <3rd p Absent [23]
Disorganized CST
  1. Abbreviations: TOP termination of the pregnancy, PMG polymicrogyria, N/A not available, ACC corpus callosum agenesis, GZ germinal zones, p percentile; foetal MRI based analysis of the phenotype; unilat: unilateral; +: Present; −: Absent; N: Normal; Asym: asymmetrical; CST: Corticospinal tract.