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Supplemental Material for Baschal et al., 2018

posted on 2018-06-20, 20:52 authored by Erin 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.


Article title

Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology

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