Role of Primary Cilia in Skeletal Disorders

Table 3

Primary cilium-related gene and scoliosis.

Gene	Scoliosis phenotype	Function in cilium biology
TBX6	Congenital and idiopathic scoliosis in humans [68, 69]	Affects morphology and motility of nodal cilia in mice and zebrafish [102, 103]
LBX1	Idiopathic scoliosis association in several ethnic groups, confirmed using different approaches [104–107]	Deleted in a mouse model of the primary ciliary dyskinesia gene [108]
GPR126	Scoliosis in humans and mice [109–111]	Essential for the development of myelinated axons [70, 112]
PAX1	Congenital and idiopathic scoliosis in humans and mice [71–73]	Other family members are associated with cilium signaling pathways [113–115]
POC5	Idiopathic scoliosis in humans [74]	Essential for centriole structure [116, 117]
KIF6	Idiopathic-type curvature in zebrafish [75]	Predicted to be involved in ciliary function or structure [118]
PTK7	Idiopathic-type curvature in zebrafish [76]	Role in cilium orientation in zebrafish [77]
FGF3	Idiopathic scoliosis in a KO mouse model; scoliosis in a human case report carrying loss-of-function mutation in the gene [78, 79]	Affecting the organization of chondrocyte primary cilia in the growth plate in mice [80]
SHP2	Idiopathic scoliosis in a KO mouse model [81, 82]	The length of primary cilia reduced in mutated mice [81]
IFT88	Idiopathic-type curvature in human and zebrafish [64, 83]	Essential for ciliogenesis [83]
IFT20	Idiopathic-type curvature in zebrafish [83]	Essential for ciliogenesis [83]
Arl13b	Idiopathic-type curvature in zebrafish [83]	Essential for ciliogenesis [83]
Yap	Idiopathic-type curvature in zebrafish [83]	Interacts with cilia [83]