The 22q11.2 Deletion Syndrome as a Model for Idiopathic Scoliosis

Abstract

Over a century of dedicated research has been performed on the etiology of scoliosis. One of the main problems in that research is that patients only present following the onset of scoliosis and thus truly causative research is impossible. In this thesis, we introduced a new way of research in orthopedics that is already applied in other fields of medicine: using a subset of patients with a common condition as a model for the general population. We started this thesis with a more general section concerning orthopedic manifestations in 22q11.2DS. This thesis shows that there are at least 58 musculoskeletal manifestations present in 22q11.2DS, of which multiple possibly need (surgical) intervention. The presence of club foot and scoliosis occurs 25-30 times more often as compared to the general population. Already for over forty years it has been shown that there is a clear association between CHD and scoliosis. However, we showed that the 22q11.2 deletion might actually be a confounder in this presumed association. The second part of this thesis focuses on the question whether 22q11.2DS might be used as a model for scoliosis in the general population. This research clearly is not complete; however the first steps have been taken. We revealed that, phenotypically, 22q11.2DS can be used as a model for scoliosis in the general population.