[Retracted] A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development

Table 1

Genotype and phenotype information of 13 previously reported TUBG1 variants.

Case	Sex	Age at follow-up	Mutation	Mode of inheritance	Epileptic	Intellectual disability	Speech delay	Cortical dysgenesis (MRI)
This study	Female	8 years and 9 months	c.751A > T, p.Asn251Tyr	De novo	Yes	Severe	Can repeat words, cannot count or communicate	Bilateral thickening of the Guri of the lobes of the cerebral hemispheres, the cortex
Patient 1	Female	21 years	c.1160 T >  C; p.Leu387Pro	De novo	Yes	Severe	Not available	Severe posterior predominant pachygyria/agyria (posterior agyria, frontal pachygyria), thickened cortex
Patient 2	Male	18 months	c.275A > G; p.Tyr92Cys	De novo	Yes	Severe	Not available	Severe posterior predominant pachygyria/agyria (posterior agyria, frontal pachygyria), thickened cortex
Patient 3	Female	31 years	c.991A >  C; p.Thr331Pro	Father’s DNA not available	Yes	Moderate	Not available	Posterior pachygyria, moderate posterior subcortical band heterotopia
Patient 4	Male	33 years	c.63C > A; p.Phe21Leu	De novo	No	Severe	Only sounds, no speech	Posterior predominant pachygyria (posterior frontal lobe and parieto-occipital cortex)
Patient 5	Male	21 years	c.985G > T; p.Asp329Tyr	Father’s DNA not available	Yes	Severe	Nonverbal	Diffuse agyria
Patient 6	Female	19 months	c.776C > T; p.Ser259Leu	De novo	Yes	Not available	Delayed	Posterior predominant pachygyria (mild over frontal lobes, moderate over posterior lobes), cortex 10-13 mm thick
Patient 7	Female	14 years	c.776C > T; p.Ser259Leu	De novo	Yes	Not available	Nonverbal	Posterior predominant pachygyria, sparse cells over occipital lobes, cortex 13-15 mm thick
Patient 8	Female	11 years and 6 months	c.776C >  T; p.Ser259Leu	Germline mosaicism in parent	Yes	Moderate	50 words	Posterior predominant pachygyria (mild over frontal lobe, moderate over temporal and occipital lobes), cortex 6-13 mm thick
Patient 9	Male	9 years and 6 months	c.776C > T; p.Ser259Leu	Germline mosaicism in parent	Yes	Moderate	Nonverbal	Posterior predominant pachygyria (mild over frontal lobe, moderate over temporal and occipital lobes), cortex >15 mm thick
Patient 10	Male	15 years	c.769A > T; p.Ile257Phe	De novo	Yes	Moderate	5 word sentences	Posterior predominant pachygyria (almost normal over frontal lobes, pachygyria over perisylvian and occipital lobes), cortex 6-10 mm thick
Patient 11	Female	18 months	c.776C > T; p.Ser259Leu	De novo	Yes	Severe	Nonverbal	Posterior predominant pachygyria (mild over frontal lobe, moderate over temporal and occipital lobe, deep parietal lobe infolding)
Patient 12	Female	10 years	c.202G > A; p.Asp68Asn	De novo	No	Moderate	Normal	Posterior predominant pachygyria, band heterotopia, nodular heterotopia
Patient 13	Male	6 months	c1021C > T; p.Arg341Trp	De novo	Yes	Moderate global delay	Moderate global delay	Reduced cortical sulci and gyri