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Condition report · Neurological

NDE1-Related Microlissencephaly

A rare, severe inherited brain malformation with a very small head and a smooth or underdeveloped brain surface. It is caused by changes in both copies of the NDE1 gene.

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The condition we analyse

Microcephaly with Lissencephaly and/or Hydranencephaly

Autosomal recessive

Caused by changes in both copies of NDE1, which is needed for cell division in the developing brain. Loss of function disrupts the proliferation of brain progenitor cells.

Signs and symptoms

Severe microcephaly, with a simplified or smooth brain surface. In one review of reported cases, all had intellectual disability and corpus callosum agenesis.

What a diagnosis changes

Care is supportive, with seizure treatment, feeding support, physiotherapy and palliative care where needed. Genetic counselling explains the recessive inheritance, and carrier and prenatal testing are available for families.

Genes analysed

Includes 2 related subtypes ↓
  • lissencephaly 4
  • NDE1-related microhydranencephaly
MONDO:0700116Sources: [1][2]

Limitations

  • In some people, one NDE1 copy is removed by a 16p13.11 deletion. Such deletions may not be detected by small-variant analysis, so finding only one change does not rule out the condition.

References

  1. Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM et al., 2011. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. American journal of human genetics
  2. Tan L, Bi B, Zhao P, Cai X, Wan C, Shao J et al., 2017. Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review. BMC medical genetics

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