Ehlers-Danlos syndrome, Classic type (type I)
Causes
What gene changes cause Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome is caused by gene changes in one of more than 12 genes. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.
To find a medical professional nearby who can discuss information about gene changes in EDS, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.
References
- Ehlers-Danlos Syndrome. Genetics Home Reference website. Accessed July 10, 2016. https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#
- De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012;82(1):1-11.
More Causes Content
How do gene changes cause Ehlers-Danlos syndrome?
How do gene changes cause Ehlers-Danlos syndrome?
There are about a dozen genes associated with the different forms of Ehlers-Danlos syndrome (EDS). These genes produce proteins that are involved in the creation or processing of collagen. Collagen is a structural protein and is one of the major components in connective tissue. Collagen gives connective tissue form, strength and structure. Connective tissue is the material between the cells of the body that connects, supports, binds or separates other tissue or organs. It gives skin and blood vessels strength and elasticity. Because of unexpected gene changes (mutations) in specific genes, people with EDS do not produce or process collagen properly and their connective tissue does not develop in the right way. The connective tissue is weakened.
References
- Ehlers-Danlos Syndrome. Genetics Home Reference website. Accessed July 10, 2016. https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#
- Ehlers-Danlos syndrome. The National Organization for Rare Disorders website. Accessed July 10, 2016. http://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
