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Table 1 Neuropathology overview of foetuses interrupted for tubulin related microlissencephaly

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_008_ fœtus13 TUBB2B M c.716G > T p.C239F 16 Absent CP (2 layers including molecular layer) Focal - N/A N/A + N/A c.ACC Severe Hypoplasia and Dysplasia Severe pons hypoplasia N/A <3rd p N/A This series
LIS_TUB_004_ fœtus08 TUBA1A M c.978A > C p.K326N 23 Thick 2-layered cortex - + + N + Hypoplasic c.ACC Severe Hypoplasia and Dysplasia Severe pons hypoplasia - <3rd p Microretrognatism This series
Absent CST
LIS_TUB_006_ fœtus04 TUBA1A M c.856C > T p.L286F 23 Poorly differentiated CP (2–3 layers poorly individualized) - - + N + Hypoplasic c.ACC Moderate Hypoplasia Severe pons hypoplasia - <3rd p Hypoplastic external genital organs [32]
Severe hypoplasia of the CST
LIS_TUB_080_ fœtus24 TUBA1A F c.1112 T > A p.V371E 23,3 Poorly differentiated CP (2–3 layers poorly individualized) - - N/A Non individualized + - c.ACC Severe Hypoplasia Severe pons hypoplasia with hypoplasic olivary nuclei - <3rd p Microretrognatism This series
Severe hypoplasia and Disorganization of the CST
LIS_TUB_002_ fœtus20 TUBA1A F c.790C > T p.R264H 24 Absent CP (2 layers including molecular layer) - Radial columnar heterotopic neurons + N + + c.ACC Moderate Hypoplasia Severe pons hypoplasia with fragmented olivary nuclei - <3rd p Microretrognatism  
Severe hypoplasia and Disorganization of the CST
LIS_TUB_003_ fœtus18 TUBA1A M c.167 C > T p. T56M 24,3 Absent CP (2 layers including molecular layer) - + - Non individualized + Hypoplasic c.ACC Severe Hypoplasia Severe pons hypoplasia with hypoplasic olivary nuclei Optic Nerve Hypoplasia <3rd p Microretrognatism This series
Severe hypoplasia and Disorganization of the CST
LIS_TUB_004_ fœtus09 TUBA1A F c.1285G > C p.E429Q 25 4 layered cortex - Radial columnar heterotopic neurons - Non individualized + Hypoplasic c.ACC Severe Hypoplasia Severe pons hypoplasia with hypoplasic olivary nuclei - <3rd p Microretrognatism/dysmorphy/Exophthalmia/Hypertelorism This series
Severe hypoplasia and Disorganization of the CST
LIS_TUB_005_foetus01 TUBA1A M c.959G > A p.R320H 25 Absent CP Focal Radial columnar heterotopic neurons - Non individualized + - p.ACC Severe Hypoplasia and Dysplasia Severe hypoplasia (neuronal overmigration)-spinal cord anterior horn hypoplasia N/A <3rd p Microretrognatism/dysmorphy/Exophthalmia/Hypertelorism This series
Absent CST
LIS_TUB_079_ fœtus25 TUBA1A M c.302A > G p.N101S 25 Poorly differentiated CP (2–3 layers poorly individualized) - Dispersed heterotopic neurons + Non individualized N/A - c.ACC Severe Hypoplasia and Dysplasia Severe pons hypoplasia with hypoplasic olivary nuclei - <3rd p Microretrognatism/dysmorphy/Exophthalmia/Hypertelorism This series
Severe hypoplasia and Disorganization of the CST
LIS_TUB_009_ fœtus19 TUBB2B M c.745G > C p.D294H 27 Absent CP (2 layers including molecular layer) Massive - - - Non individualized + - c.ACC Severe Hypoplasia Severe hypoplasia with focal overmigration N/A <3rd p Absent This series
Absent CST
LIS_TUB_010_ fœtus17 TUBB3 M c.1162A > G p.M388V 27 Thin CP with 2 layers - Dispersed heterotopic neurons + N + Hypoplasic c.ACC Severe Hypoplasia and Dysplasia Severe pons hypoplasia Optic Nerve Hypoplasia <3rd p Absent [33]
Severe hypoplasia of the CST
LIS_TUB_006_ fœtus03 TUBA1A F c.908 T > G p.V303G 36 Thick severe 2 layered - - - N + Hypoplasic p.ACC Severe Hypoplasia and Dysplasia Severe pons hypoplasia - <3rd p Absent [33]
Severe hypoplasia of the CST
LIS_TUB_081_ fœtus26 TUBA1A M c.959G > A p.R320H 26 Absent CP (2 layers including molecular layer) - Dispersed and nodular heterotopic neurons N/A N/A -   c.ACC Severe Hypoplasia and Dysplasia Severe pons hypoplasia - <3rd p Facial dysmorphism  
Severe hypoplasia of the CST
  1. Abbreviations: TOP termination of the pregnancy, MicroLis microlissencephaly, 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; CP: cortical plate; CST: Corticospinal tract.