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

Table 3.

Neuropathology overview of foetuses interrupted for polymicrogyria like cortical dysplasia

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	Severe pons hypoplasia
														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
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	Unilateral hypoplasia of the CST	N/A	10th p	Absent	This series
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
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	Disorganized CST	-	5th p	Absent	This series
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
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	Disorganized CST	N/A	<3rd p	Absent	This series
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]
LIS_TUB_056_foetus12	TUBB2B	M	c.514 T > C	p.S172P	27		Focal	Radial columnar heterotopic neurons	-	N	-	N	c.ACC	Mild Vermian Dysplasia	Disorganized CST	N/A	<3rd p	Absent	[23]

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.