Supplemental Material for Baschal et al., 2018

Idiopathic
scoliosis (IS) is a complex genetic disease of unknown etiology. We completed exome sequencing for five IS
families and performed GO term enrichment analyses on the resulting variant
lists. Overall, we
identified enriched categories in our affected families that include stereocilia
and other actin-based cellular projections, cilia and other microtubule-based
cellular projections, and the extracellular matrix (ECM). Our results suggest that
there are multiple paths to IS and provide a foundation for future studies of
IS pathogenesis.