The EHMT2 gene is likely related to a rare genetic condition that affects how a child grows and develops, especially in terms of brain function. Scientists are still studying this gene, and only a few cases have been identified so far. Because of this, EHMT2 is considered a “candidate gene” for genetic neurodevelopmental disorder, meaning researchers believe it may cause a genetic condition, but more evidence is needed.
Children described so far with changes in the EHMT2 gene showed:
● Developmental delays (reaching cognitive and motor milestones later than expected, such as walking or talking);
● Learning difficulties;
● Low muscle tone (feeling floppy or weak);
● Some subtle differences in facial features.
The number of people affected is still unknown, and clinical characteristics may vary from one child to another.
The EHMT2 gene plays a role in turning other genes on or off, especially during brain development. More research is underway to better understand this condition, find more affected individuals, and improve diagnosis and care in the future.
EHMT2