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Causes
By Mayo Clinic staff
The subtypes of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations) that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.
These genetic mutations, which are passed on from parent to child, alter normal enzyme activity, leaving connective tissues weak and unstable.
Variety of inheritance patterns
Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you only need one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, there's a 50 percent chance that you'll pass the gene on to each of your children.
Two EDS types — kyphoscoliosis and dermatosparaxis — are passed along in an inheritance patter called autosomal recessive. This means you need two copies of the mutated gene to develop the disease. If you inherit only one copy, you're considered a "carrier" of the disorder, but you likely won't develop signs or symptoms.
The following table details the ways in which different EDS types are inherited and the genetic mutations each one is associated with.
| EDS type | Manner of inheritance | Genetic association |
|---|---|---|
| Hypermobility | Autosomal dominant | Mostly unknown; a few have a mutation in the tenascin-X gene |
| Classical | Autosomal dominant and autosomal recessive subtypes | About 50 percent have a mutation in the COL5A1 or COL5A2 gene |
| Vascular | Autosomal dominant | Mutations in the COL3A1 gene |
| Kyphoscoliosis | Autosomal recessive | Deficient activity of the enzyme lysyl hydroxylase 1, which is encoded by the PLOD1 gene |
| Arthrochalasis | Autosomal dominant | Mutations in the COL1A1 or COL1A2 gene |
| Dermatosparaxis | Autosomal recessive | Deficient activity of the enzyme procollagen N-proteinase |
