Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

Erin E Baschal, Cambria I Wethey, Kandice Swindle, Robin M Baschal, Katherine Gowan, Nelson L S Tang, David M Alvarado, Gabe E Haller, Matthew B Dobbs, Matthew R G Taylor, Christina A Gurnett, Kenneth L Jones, Nancy H Miller

G3 Genes|Genomes|Genetics, 2015. DOI 10.1534/g3.114.015669

Has this study been replicated?

The atlas records 1 replication of this study. Recorded outcomes: 1 failed. The earliest on record is from 2019.

Replications

Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: evidence from a large-scale replication study, Xia et al. (2019). BMC Musculoskeletal Disorders. Outcome recorded: failed. HSPG2 gene was not associated with the susceptibility or the phenotypes of AIS in the Chinese population. Outcome read from the abstract. View paper

Cite this record

Baschal, E. E., Wethey, C. I., Swindle, K., Baschal, R. M., Gowan, K., Tang, N. L. S., Alvarado, D. M., Haller, G. E., Dobbs, M. B., Taylor, M. R. G., Gurnett, C. A., Jones, K. L., & Miller, N. H. (2015). Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis. G3 Genes|Genomes|Genetics, 5(2), 167–174. https://doi.org/10.1534/g3.114.015669

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