Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Sequencing of the TUBB2B gene confirmed a heterozygous mutation: c. 260C>A (p. Pro87Gln).
RomanielloRArrigoniFBassiMTet al.Mutations in α- and β-tubulin encoding genes: implications in brain malformations. Brain Develop2015; 37: 273–280.
2.
SatoTKatoMMoriyamaKet al.A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Brain Develop2018; 40: 819–823.
3.
KatoM. Genotype–phenotype correlation in neuronal migration disorders and cortical dysplasias. Front Neuroscie2015; 9: 181.
4.
ChakrabortiSNatarajanKCurielJet al.The emerging role of the tubulin code: from the tubulin molecule to neuronal function and disease. Cytoskeleton2016; 73: 521–550.
5.
RomeroDMBahi-BuissonNFrancisF. Genetics and mechanisms leading to human cortical malformations. Semin Cell Develop Biol2018; 76: 33–75.
6.
ParriniEContiVDobynsWBet al.Genetic basis of brain malformations. Mol Syndromol2016; 7: 220–233.
7.
RomanielloRArrigoniFFryAEet al.Tubulin genes and malformations of cortical development. Eur J Med Genet. Epub ahead of print 17 July 2018. DOI: 10.1016/j.ejmg.2018.07.012.
8.
JaglinXHPoirierKSaillourYet al.Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet2009; 41: 746–752.
9.
GuerriniRMeiDCordelliDMet al.Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet2012; 20: 995–998.
