Intriguingly, mutations in both Cep104 and Nek1 cause ciliopathies in humans: in the case of Cep104 Joubert syndrome (Srour et al., 2015) and in the case of Nek1 short-rib thoracic dystrophy or oral-facial-digital syndrome type II (El Hokayem et al., 2012, Monroe et al., 2016, Thiel et al., 2011). This evidence concerns the gene NEK1 and Joubert syndrome.