Clinical testing is done and confirmed this finding by
Dr Chirag Patel MD FRACP Consultant Clinical Geneticist
Genetic Health Queensland Royal Brisbane and Women’s Hospital Metro North Health Service District
The clinical testing has confirmed that Diyanna has a CACNA1E gene mutation and that this is not present in either parent (de novo).
This is a newly described neurodevelopmental disorder with a series of 30 patients reported in 2019. They discussed the current knowledge regarding the CACNA1E gene, which has a crucial role in normal brain development. The key clinical features include:
1. Developmental issues – significant developmental delay and intellectual impairment
2. Neurological issues – epilepsy, contractures, dystonia, truncal hypotonia (decreased tone), and peripheral hypertonia (increased tone).
Relating to the significant neurological issues, it is not uncommon for these individuals to have issues with their feeding and breathing.
Our body is made up of millions of cells. Within each cell there are thousands of genes, which are the instruction manuals that tell our body how to grow and develop. Our genes come in pairs, one which we inherit from our mother, and the other from our father. The CACNA1E gene is an important neurodevelopmental gene and we all have two normal copies of this gene. For a person to be affected with CACNA1E neurodevelopmental issues, they need to have a mistake (mutation) in only one copy of the CACNA1E gene. The condition can affect males and females equally. We would expect somebody with a CACNA1E gene mutation to develop the condition, but the severity can be extremely variable even between patients.