Rfx3 encodes a transcription factor controlling the expression of many genes involved in ciliary assembly and function (Thomas et al., 2010); RPGRIP1L is mutated in Joubert and Meckel Gruber Syndromes (Arts et al., 2007; Delous et al., 2007) and codes for a transition zone protein. The gene discussed is RFX3; the disease is Meckel syndrome.