Malformations of cortical development (MCD): other genes

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

Malformations of cortical development (MCD): other genes. ASPM, CDK5RAP2, CENPJ, MCPH1, NDE1, PCNT, PNKP, RTTN, STIL. Fully referenced neurology checklist.

Microcephaly genes

  • ASPM
  • CDK5RAP2
  • CENPJ
  • MCPH1
  • NDE1
  • PCNT
  • PNKP
  • RTTN
  • STIL
  • WDR62

Periventricular nodular hyperplasia genes

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Muscular dystrophy dystroglyconopathy genes

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Pachygyria genes

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Simplified gyral pattern gene: SGPL1

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Focal cortical dysplasia genes

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References

  1. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 135:1348-1369.
  2. Lee J. Malformations of cortical development: genetic mechanisms and diagnostic approach. Korean J Pediatr 2017; 60:1-9.
  3. Passemard S, Titomanlio L, Elmaleh M, et al. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 2009; 73:962-969.
  4. Stouffs K, Moortgat S, Vanderhasselt T, et al. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. Eur J Med Genet 2018; pii: S1769-7212(17)30638-9 (Epub ahead of print).
  5. Wambach JA, Wegner DJ, Yang P, et al. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res 2018; doi: 10.1038/s41390-018-0083-z (Epub ahead of print).
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