Malformations of cortical development (MCD): polymicrogyria genes

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Malformations of cortical development (MCD): polymicrogyria genes. Knobloch syndrome, Retinal detachment. Fully referenced neurology checklist.

COL18A1: features

  • Knobloch syndrome
  • Retinal detachment
  • High myopia
  • Occipital encephalocele

PIK3R2: types

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Other genes

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References

  1. Corbett MA, Turner SJ, Gardner A, et al. Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. Eur J Med Genet 2017; 60:437-443.
  2. Caglayan AO, Baranoski JF, Aktar F, et al. Brain malformations associated with Knobloch syndrome-review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol 2014; 51:806-813.e8. 
  3. Haghighi A, Tiwari A, Piri N, et al. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS One 2014; 9:e112747.
  4. Hull S, Arno G, Ku CA, et al. Molecular and clinical findings in patients with Knobloch syndrome. JAMA Ophthalmol 2016; 134:753-762.
  5. White RJ, Wang Y, Tang P, Montezuma SR. Knobloch syndrome associated with polymicrogyria and early onset of retinal detachment: two case reports. BMC Ophthalmol 2017; 17:214.
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