Studies have shown that a mutated COL2A1 gene is responsible for all type II chondroldysplasias, including<unk> . It is believed that point mutations or the alteration of splice sites in COL2A1 domains will result in<unk> . The COL2A1 domain typically spans between exon 12 and 24. Mutations that occur at a splice donor site results in the loss of function at that site. This leads to the skipping of the exon and deletion of amino acids. The loss of these amino acids result in an abnormal procollagen II structure. The structure is not stable like the normal procollagen II structure and is normally degraded at a faster rate.
Kniest dysplasia
Atypia
Stener lesion
Field cancerization
Nuclear atypia
Epithelial dysplasia
Mammoplasia
Zoobiquity