CCN2 Gene Mutations: Discovery of a New Hereditary Skeletal Dysplasia and the Importance of CCN2 in Human Bone Formation

Journal: Nature

Author: Various Authors, China and Australia

Monoallelic mutations in the CCN2 gene have been found to cause hereditary skeletal dysplasia in humans.

Researchers discovered monoallelic mutations in the CCN2 gene in patients with spondyloepimetaphyseal dysplasia (SEMD). These mutations inhibit the secretion of CCN2 protein and weaken bone formation. Similar phenotypes were observed in zebrafish and mouse models. This study demonstrates that CCN2 plays a crucial role in human bone formation and has identified the cause of a new hereditary skeletal dysplasia.