MKS1 and Bardet-Biedl syndrome: Recently novel compound variants have been reported in CEP290 (Peng et al., 1935), and aggregating results regarding mutations in MKS1 have resulted in a proposed genotype-phenotype correlation linking the severity of mutations and the domains affected to diagnoses of either MKS, JBTS or BBS (Leitch et al., 2008; Luo et al., 2020; Lin et al., 2022).