WDPCP and ciliopathy: Several other missense mutations in WDPCP are associated with ciliopathies (Kim et al., 2010; Saari et al., 2015; Seo et al., 2011; Toriyama et al., 2016), and several of these missense mutations (D54N, R55K, L205F, E365G, S708F) do not affect the expression or stability of the mutant WDPCP proteins (Langousis et al., 2022).