Short answer · Medically reviewed summary · Last updated: 2026-05-08
TL;DR: CHARGE syndrome is primarily caused by a mutation in the CHD7 gene, which provides instructions for making a protein critical to early embryonic development. In approximately 65% to 70% of individuals diagnosed with CHARGE syndrome, a pathogenic variant in this specific gene is identified through genetic testing. What is the underlying cause of CHARGE syndrome? The primary cause of CHARGE syndrome is a genetic mutation, most commonly occurring as a "de novo" event.
2 people with CHARGE Syndrome have shared their first-person experience on this question at DiseaseMaps.
Which are the causes of CHARGE Syndrome?
Causes of CHARGE Syndrome explained: genetic and environmental factors, reviewed against medical sources, plus patient perspectives.
TL;DR: CHARGE syndrome is primarily caused by a mutation in the CHD7 gene, which provides instructions for making a protein critical to early embryonic development. In approximately 65% to 70% of individuals diagnosed with CHARGE syndrome, a pathogenic variant in this specific gene is identified through genetic testing.
What is the underlying cause of CHARGE syndrome?
The primary cause of CHARGE syndrome is a genetic mutation, most commonly occurring as a "de novo" event. This means the mutation occurs spontaneously in the egg or sperm cell, or during early fetal development, rather than being inherited from a parent. The CHD7 gene belongs to a family of genes that "remodel" chromatin, acting like a master switch that helps turn other genes on or off during the critical formation of organs and structures in the developing fetus.
Is CHARGE syndrome hereditary?
In the vast majority of cases, CHARGE syndrome is not inherited. Because the condition is typically caused by a new genetic change, parents of a child with CHARGE syndrome are usually not carriers of the mutation. However, in rare instances, a parent may have germline mosaicism, where the mutation is present in only a small percentage of their reproductive cells, leading to a slightly higher recurrence risk for future pregnancies.
What factors contribute to the development of CHARGE syndrome?
While the CHD7 gene is the primary driver, clinical researchers are still investigating why the presentation of CHARGE syndrome varies so significantly among the 122 members of the DiseaseMaps community and others globally. Key factors include:
- Genetic mutations: Pathogenic variants in CHD7 account for the majority of cases.
- Variable Expressivity: Even with the same mutation, different individuals may experience different symptoms, likely due to other genetic modifiers.
- Environmental factors: Currently, there is no evidence linking environmental exposures during pregnancy to the development of CHARGE syndrome.
What is the current state of research?
Current research into CHARGE syndrome is focused on understanding how CHD7 interacts with other genes to orchestrate the development of the eyes, ears, heart, and cranial nerves. Scientists are utilizing stem cell models and animal studies to identify potential therapeutic targets that could one day mitigate the developmental impacts of CHARGE syndrome.
Next steps
- Consult with a clinical geneticist to discuss genetic testing options for CHD7.
- Connect with the 122 individuals sharing their experiences on DiseaseMaps.org to learn about real-world management strategies.
- Reach out to the CHARGE Syndrome Foundation for resources on specialized multidisciplinary care.
Medical disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): CHARGE syndrome.
- Orphanet: Rare disease database entry for CHARGE syndrome.
- OMIM (Online Mendelian Inheritance in Man): CHD7 gene and CHARGE syndrome clinical synopsis.
- The CHARGE Syndrome Foundation: Resources for families and clinicians.
Posted Jul 25, 2017 by Andrea 2000
Posted Sep 7, 2017 by Pierron-Jordan 1500
