It is interesting that mutations causing JBTS tend to cluster in the second half of the CEP290 gene, whereas mutations segregating with LCA, Senior Löken Syndrome and MKS are homogeneously distributed throughout the gene.44, 45 Of note, domains within the CEP290 protein share significant similarity with CENP-F, with several putative coiled-coil domains, a region with homology to structural maintenance of chromosomes segregation ATPases, a bipartite nuclear localisation signal and six RepA/Rep+ protein kinase inducible domain motifs and an ATF4-binding domain.46 Here, CEP290 is linked to Meckel syndrome, type 1.