Additionally, studies on hTERT-RPE1 cells indicate that total abolition of IFT122 in knockout cells results in cilia absence, whereas even exogenous expression of CED-associated missense variants, located in the WD repeat domain, restored ciliogenesis, but not ciliary protein trafficking (Takahara et al. 2018). Here, IFT122 is linked to cranioectodermal dysplasia.