The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype.
[jmg.bmj.com]
These mutations cause loss of function of the COL2A1 gene. The majority of these mutations are associated with normal stature and early onset osteoarthritis.
[rarediseases.org]
Other types of mutations in the COL2A1 gene have been associated with spondyloepiphyseal dysplasia congenita, Kniest dysplasia, achondrogenesis type II, hypochondrogenesis
[jmg.bmj.com]