The EHMT2 gene contains important instructions for making a protein that helps control how other genes work, especially during brain development. It belongs to a group of genes that act like “switches,” turning other genes on or off when needed.
Genetic changes (mutations) in the EHMT2 gene have been found in a few children with neurodevelopmental challenges. These mutations can alter the production, quantity, or functionality of the EHMT2 protein. In some cases, the protein may not be produced at all; while in others, it is produced but does not function properly.
When the EHMT2 protein fails to operate as expected, it can disrupt normal brain development, potentially leading to difficulties in learning, communication, and movement, among other clinical features observed in affected individuals.
Researchers are still studying how changes in this gene affect the body and the brain. Additional patient cases and further studies are needed to deepen our understanding of this condition and its underlying mechanisms.
EHMT2