posted on 2018-06-20, 20:52authored byErin E. Baschal, Elizabeth A. Terhune, Cambria I. Wethey, Robin M. Baschal, Kandice D. Robinson, Melissa T. Cuevas, Shreyash Pradhan, Brittan S. Sutphin, Matthew R.G. Taylor, Katherine Gowan, Chad G. Pearson, Lee A. Niswander, Kenneth L. Jones, Nancy H. Miller
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.
History
Article title
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology