Table 1.

Tubulinopathies: Molecular Genetics and Complex Cortical Malformations

Gene 1MOIComplex Cortical Malformations
CLDysgyriaSGPMLISOtherReferences
TUBA1A AD37%12%4% 213%Lissencephaly w/cerebellar hypoplasia (15%); predominantly central pachygyria (30%)Kumar et al [2010], Bahi-Buisson et al [2014], Hebebrand et al [2019]
TUBB
(TUBB5)		AD3 personsRange: SGP to focal polymicrogyria & microcephaly Breuss et al [2012]
TUBB2A AD2 personsDysmorphic CC, normal gyral pattern, & basal ganglia Cushion et al [2014]
TUBB2B AD87.5%30%9.4%Lissencephaly w/agenesis of CC (3.1%); open-lip schizencephaly (1 person); CFEOM (1 family)[Guerrini et al [2012], Romaniello et al [2012], Cushion et al [2013], Amrom et al [2014]
TUBB3 AD90%10%1 person 3Brain stem & cerebellar vermian hypoplasia & basal ganglia dysmorphism; CFEOMPoirier et al [2010], Tischfield et al [2010]
TUBG1 AD2/3 personsPredominantly posterior subcortical band heterotopia (1/3 persons)Poirier et al [2013a], Brock et al [2018]

AD = autosomal dominant; AR = autosomal recessive; CC = corpus callosum; CFEOM = congenital fibrosis of the extraocular muscles; CL = classic lissencephaly; MLIS = microlissencephaly; MOI = mode of inheritance; SGP = simplified gyral pattern

1.

Genes are in alphabetic order.

2.

Dysgyria or cortical dysplasia resembling polymicrogyria [Jansen et al 2011, Cushion et al 2013, Poirier et al 2013b]

3.

At the extreme severe end of the spectrum, only one fetus was reported with microlissencephaly and corpus callosum agenesis, severe brain stem and cerebellar hypoplasia, and dysmorphic basal ganglia [Poirier et al 2010] (Figure 3 A-C).

From: Tubulinopathies Overview

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