Both autosomal dominant disorders have skeletal, ocular and cardiovascular manifestations. Fibrillin-2 plays an important role in the skeletal system early in embryogenesis.
Types of mutation are similar in both genes.
These results indicate that the rarity of CCA results from mutations in a limited region of the gene, which plays an important role in human skeletal development. We are grateful to the British Scoliosis Research Foundation for support through the Robert Luff Foundation Research Scholarship.