Complex cortical dysplasia with other brain malformations 1- MedGen UID:
- 814727
- •Concept ID:
- C3808397
- •
- Disease or Syndrome
Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).
Genetic Heterogeneity of Complex Cortical Dysplasia with Other Brain Malformations
See also CDCBM2 (615282), caused by mutation in the KIF5C gene (604593) on chromosome 2q23; CDCBM3 (615411), caused by mutation in the KIF2A gene (602591) on chromosome 5q12; CDCBM4 (615412), caused by mutation in the TUBG1 gene (191135) on chromosome 17q21; CDCBM5 (615763), caused by mutation in the TUBB2A gene (615101) on chromosome 6p25; CDCBM6 (615771), caused by mutation in the TUBB gene (191130) on chromosome 6p21; CDCBM7 (610031), caused by mutation in the TUBB2B gene (612850) on chromosome 6p25; CDCBM9 (618174), caused by mutation in the CTNNA2 gene (114025) on chromosome 2p12; CDCBM10 (618677), caused by mutation in the APC2 gene (612034) on chromosome 19p13; CDCBM11 (620156), caused by mutation in the KIF26A gene (613231) on chromosome 14q32; CDCBM12 (620316), caused by mutation in the CAMSAP1 gene (613774) on chromosome 9q34; CDCBM13 (614563), caused by mutation in the DYNC1H1 gene (600112) on chromosome 14q32; CDCBM14A (606854) and CDCBM14B (615752), caused by mutation in the ADGRG1 gene (604110) on chromosome 16q21; and CDCBM15 (618737), caused by mutation in the TUBGCP2 gene (617817) on chromosome 10q26.
The designation CDCBM8 was previously used to represent a phenotype caused by mutation in the TUBA8 gene (see 605742.0001) on chromosome 22q11; the patients with this phenotype were subsequently found to have a homozygous mutation in the SNAP29 gene (604202.0002), also on chromosome 22q11, that may have been responsible for the disorder. The same mutation in SNAP29 causes a similar disorder, CEDNIK syndrome (609528).
See also lissencephaly (e.g., LIS1, 607432), which shows overlapping features and may result from mutation in tubulin genes.