Kniest Dysplasia - Genetics

Genetics

Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other Connective Tissues. Mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of the disorder.

Kniest dysplasia is inherited in an autosomal dominant pattern, which means only one copy of the altered gene is necessary to cause the disorder.