CEP290 has numerous interacting partners (Fig. 2) and CEP290 mutations are associated with retinal degeneration in six partially overlapping ciliopathy syndromes, consistent with a central role in ciliary and/or outer segment maintenance (Joubert Syndrome (JBS), nephronophthisis (NPHP), Leber congenital amaurosis (LCA), Senior-Loken syndrome (SLS), Meckel-Gruber syndrome (MKS) and Bardet-Biedl syndrome (BBS) (Sayer et al., 2006)). The gene discussed is CEP290; the disease is Johanson-Blizzard syndrome.