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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.