Why
Our brain processes information and determines our daily functioning. Growing and developing a brain requires great precision in the creation, docking and positioning of nerve cells. What is the consequence for this precision in making if the NIPBL gene, a key regulator in making cells, malfunctions.
Cause of Cornelia de Lange syndrome
We already know that several genes play a role in Cornelia de Lange syndrome (CdLS). The illustration below shows that NIPBL, the gene altered (mutated) in the vast majority of CdLS cases, plays a role in the so-called Cohesin Complex.
Changes in the brain
We know that in people with CdLS we often see the following:
- smaller head circumference
- intellectual disability
- Problems with speech/language development
- behavioural problems
- seizures
Better Understanding
So it is interesting to better understand ;
- How are the nerve cells in the brain connected?
- How are these connections when there are healthy as well as 'sick' nerve cells (mosaicism)?
- Which genes in the brain are all turned ON and OFF (regulated) by NIPBL?
- How does this affect brain development?
