A new cause of osteogenesis imperfecta has been discovered. Researchers at the VU University in Amsterdam have discovered that the disease, which is characterized by fragile bones, is caused by a gene.
Osteogenesis imperfecta is a condition that comes in many different forms, but what everyone has in common are very fragile bones. Some patients have fractures so often that their bodies become fused. Next to breakable bones Short height, blue-gray whites of the eyes, hearing loss and dental abnormalities are hallmarks of the disease.
That the disorder is hereditary , was already known. But only now have researchers discovered that errors in the PPIB gene cause the most severe form of the disease. Thanks to this discovery, parents of children with osteogenesis imperfecta can determine at an early stage whether the unborn child also suffers from the disease during a subsequent pregnancy.
Or errors in the gene also cause less severe forms of the disease to be investigated.
