CPLANE1 and orofaciodigital syndrome: Dysfunction of Jbts17 (also known as CPLANE1), a gene mutated in Joubert syndrome, Meckel syndrome, and oral-facial-digital syndrome, causes ciliogenesis and ciliary trafficking defects, and results in decreased Shh target gene expression (Damerla et al., 2015; Toriyama et al., 2016).