For example, variants in BBS genes (BBS2, BBS4, and BBS6) result in MKS-like phenotypes (Karmous-Benailly et al., 2005), while pathogenic variants in MKS-associated genes (MKS1/BBS13, centrosomal proteins 290 (CEP290/MKS4/BBS14)) cause clinical phenotypes of BBS (Leitch et al., 2008). The gene discussed is CEP290; the disease is Meckel syndrome, type 1.