CHD7

CHD7 refers to the chromodomain helicase DNA binding domain containing 7 gene. This gene provides instructions for making a protein that is involved in regulating gene expression, meaning it helps control which genes are turned on or off in cells. The CHD7 protein is thought to play a crucial role in the development of various tissues and organs, particularly during embryonic development.

Mutations or changes in the CHD7 gene are associated with a genetic disorder known as CHARGE syndrome. CHARGE syndrome is a complex condition that affects multiple parts of the body and can cause a wide range of birth defects and developmental issues. These can include characteristic facial features, heart defects, atresia of the choanae (a blockage in the back of the nose), growth and developmental retardation, genital abnormalities, and ear abnormalities. The severity and specific combination of symptoms can vary greatly among individuals with CHARGE syndrome, even if they have the same mutation in the CHD7 gene. Research is ongoing to fully understand the precise functions of the CHD7 protein and how its malfunction leads to the diverse manifestations of CHARGE syndrome.