With this project we aim to validate a new gene we identified to cause autosomal dominant isolated scoliosis. Isolated scoliosis is a phenotype with an exceptionally low diagnostic yield and so far only 2 other genes have been found to be associated with isolated monogenic scoliosis. We have identified a new disease gene in one large family by linkage analysis and genome sequencing. We are characterizing this new disease gene and the associated severe early-onset scoliosis using an animal model, radiological analysis and detailed phenotyping. We have investigated the causative deep-intronic variant that segregates with the phenotype using EMSA assay and RNA sequencing.
To further strengthen the association of this new gene with scoliosis, we are now looking for additional patients with alterations in the same gene.
