WES revealed further heterozygous missense variants in three known recessive ciliopathy genes in patient G2 (Figure 1C), all affecting evolutionarily conserved residues of the respective proteins: (1) c.536 G>A (p.Arg179His, rs140259402; MAF of 0.001647% in ExAC db) in CEP41, the gene associated with JBTS15 (Lee et al., 2012). Here, CEP41 is linked to ciliopathy.