The 1p36 deletion is one of the most frequently found chromosomal rearrangements in the human species. In patients, this abnormality is often associated with a malformation of the cerebral cortex called polymicrogyria (where the cortex has an excess of abnormal gyri). The gene responsible for this malformation has not been identified. The Human Neurogenetics team identified a chromosomal micro-rearrangement in the 1p36 region in a patient with polymicrogyria. The region contains the gene encoding enolase 1 (ENO1), a gene expressed in the central nervous system. In this patient, the expression of the ENO1 gene is reduced by 50%. The team showed that decreasing the expression of the Eno1 gene in rats during embryonic brain development is sufficient to disrupt neuronal migration. This work suggests that ENO1 is a good candidate to be involved in the malformation of the cerebral cortex present in patients with the 1p36 deletion.
The paper has just been published in European Journal of Human Genetics.
Eur J Hum Genet 2020 Jun 2. doi: 10.1038/s41431-020-0659-z. Online ahead of print.PMID: 32488097