Researchers at VU University Amsterdam have pinpointed a new genetic trigger for osteogenesis imperfecta (OI), the brittle bone disease marked by extreme bone fragility.
Osteogenesis imperfecta varies in severity, but all forms feature highly breakable bones. In the most extreme cases, frequent fractures lead to skeletal deformities. Alongside breakable bones, hallmarks include short stature, blue-gray sclerae, hearing loss, and dental problems.
The hereditary disorder was long known, but now experts have linked mutations in the PPIB gene to its severest type. This advance lets parents of affected children test early in future pregnancies to check for the condition.
Investigations continue into whether gene errors also drive milder OI forms.
