Complex cortical dysplasia with other brain malformations

Definition:

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes have been reported.

References:

[1]. Ashleigh E Schaffer, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. [Content Brief]

[2]. Catherine Fallet-Bianco, et al. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun. 2014 Jul 25;2:69. [Content Brief]

[3]. Karine Poirier, et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet. 2010 Nov 15;19(22):4462-73. [Content Brief]

[4]. Karine Poirier, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. [Content Brief]

[5]. Martin Breuss, et al. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep. 2012 Dec 27;2(6):1554-62. [Content Brief]

[6]. Sangmoon Lee, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 Oct 3;105(4):844-853. [Content Brief]

[7]. Thomas D Cushion, et al. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 3;94(4):634-41. [Content Brief]

[8]. Xavier Hubert Jaglin, et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 2009 Jun;41(6):746-52. [Content Brief]

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