. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69

Table 2.

Neuropathological overview of foetuses interrupted for tubulin related lissencephalies

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
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	Nuclei and corticospinal tract	Ophthalmological signs	Head circumference	Additional morphological signs	Reference
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]
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 hypoplasia and Disorganization of the CST	-	5th p	Absent	[32]
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]
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	Unilateral hypoplasia of the CST	N/A	5th p	Absent	[32]
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]
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	Mild hypoplasia of the CST	N/A	5th p	Absent	[32]

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.