Is CHARGE Syndrome hereditary?
CHARGE Syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of birth defects that can vary in severity from person to person. The acronym CHARGE stands for the different systems and features that may be affected: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness.
When it comes to the hereditary nature of CHARGE Syndrome, it is important to understand that most cases are not inherited from parents. The majority of individuals with CHARGE Syndrome have a de novo mutation, meaning the genetic change occurred spontaneously during the formation of the egg or sperm or at the time of conception. These mutations are not present in the parents' genetic makeup and are unlikely to recur in future pregnancies.
However, in some rare cases, CHARGE Syndrome can be inherited from a parent who carries a genetic mutation. The syndrome follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In these cases, one of the parents typically has CHARGE Syndrome or carries a mutation in a gene associated with the disorder.
It is important to note that CHARGE Syndrome is caused by mutations in the CHD7 gene, which provides instructions for making a protein involved in the development of many organs and tissues. The CHD7 gene mutations can occur spontaneously or be inherited from a parent.
Genetic testing can be conducted to identify mutations in the CHD7 gene and confirm a diagnosis of CHARGE Syndrome. This testing can also help determine whether the condition is inherited or occurred spontaneously.
In summary, CHARGE Syndrome is primarily caused by de novo mutations that occur spontaneously and are not inherited from parents. However, in rare cases, the syndrome can be inherited from a parent who carries a genetic mutation. Genetic testing can provide more information about the specific genetic cause of CHARGE Syndrome in an individual.