Skip to main content
. 2017 Mar 14;7:44260. doi: 10.1038/srep44260

Table 1. IS-associated genes in humans and/or animal models, which are also associated with cilia.

Gene Scoliosis Association Cilia Association
TBX6 PMIDs: 26120555, 20228709 (Congenital and idiopathic scoliosis in humans) PMIDs: 18575602 & 17765888 (Affects morphology and motility of nodal cilia in mice & zebrafish)
LBX1 PMIDs: 26394188, 25987191, 25675428, 24721834 (Idiopathic scoliosis association in several ethnic groups, confirmed using different approaches) PMIDs: 18541024 (deleted in a mouse model of the primary ciliary dyskinesia gene)
GPR126 PMIDs: 25954032, 25479386, 23666238 (Idiopathic scoliosis in humans and mice) PMIDs: 16875686, 24227709 (No direct relation to cilia. Essential for the development of myelinated axons in zebrafish and mice)
PAX1 PMIDs: 25784220, 19080705, 16093716 (Congenital and idiopathic scoliosis in humans and mice) PMIDs: 19517571, 23907320, 24740182 (Other family members are associated with cilia signaling pathways or ciliated tissues)
POC5 PMID: 25642776 (Idiopathic scoliosis in humans) PMID: 23844208, 19349582 (interacts with cilia and is essential for centriole structure in humans and Drosophila)
KIF6 PMID: 25283277 (idiopathic-type curvature in zebrafish) PMID: 16084724 (Predicted to be involved in ciliary function or structure)
PTK7 PMID: 25182715 (idiopathic-type curvature in zebrafish) PMID: 20305649 (Role in cilia orientation in zebrafish)
FGF3 PMID: 25852647, 24864036 (Idiopathic scoliosis in a KO mouse model; Scoliosis in a human case report carrying loss-of-function mutation in the gene) PMID: 26091072 (Affecting the organization of chondrocyte primary cilia in the growth plate in mice)