A new receptor to turn on bone growth

Abstract

Several years ago, an eleven year old child was referred to the Bone Clinic at Auckland Hospital with a history of multiple vertebral fractures occurring after minimal trauma. She also had severe visual impairment. Her care was taken over by Dr Tim Cundy who specialises in paediatric bone disease. He recognised her as fitting the diagnostic critieria for osteoporosis pseudoglioma syndrome, a congenital condition of unknown cause and with no known treatment – a depressingly common combination of circumstances in the field of paediatric bone disease. Tim established contact with a group at Case Western Reserve University in Cleveland led by Dr Matt Warman, who were attempting to identify the genetic lesion responsible for this autosomal recessive condition. Accordingly, clinical data and DNA were contributed from the Auckland patient and her family. Another New Zealand patient and his family also took part, and two families from Australia were recruited to the international group, which included collaborators from fifteen countries.