Born to break: Mutation causes fragile bones

(University of Connecticut) People born with Hajdu-Cheney syndrome develop misshapen skeletons and bones that quickly start to soften and fracture. Now, UConn Health researchers have replicated the disease in mice. A specific mutation in the NOTCH2 gene causes overabundant bone-absorbing cells that seem to cause the characteristic bone loss and fractures of Hajdu-Cheney syndrome. The findings could illuminate the mechanisms of bone loss in humans, and point to a potential treatment.