Mutations in the human type II (COL2A1)
collagen gene appear to be the basis for many skeletal disorders such as
spondyloepiphyseal dysplasia, achondrogenesis, Kniest, and Stickler syndrome.
Several of these conditions include early-onset osteoarthritis in addition to
the chondrodysplasia phenotype.
Other collagen genes are also involved
etiologically in the chondrodysplasias, e.g., an autosomal dominant form of
Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia (SED) and
early-onset
osteoarthritis, results from a mutation involving the COL11A2 gene that
encodes the α2 (XI) chain of the quantitatively minor fibrillar type XI
collagen.
Multiple epiphyseal dysplasia in humans
involving flattening of the epiphyses, shortening of endochondral bones, and
early-onset osteoarthritis has been linked to a mutation in type IX collagen,
and mice made transgenic for α1 (IX) mutation have been shown to develop
osteoarthritis and intervertebral disc degeneration prematurely.
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