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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.
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Acta Neuropathologica Communications

ISSN: 2051-5960

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