Moreover, both missense and truncating variants affecting the entire length of CPLANE1 have been found in patients with either exclusively neurological JS phenotype or severe/lethal OFD6 phenotypes (Lopez et al., 2014; Romani et al., 2015); similarly, pathogenic variants in CEP290 and TMEM231 have been associated to a large spectrum of ciliopathies even within the same family, without clear genotype–phenotype correlation (Coppieters, Lefever, Leroy, & De Baere, 2010; Maglic et al., 2016). This evidence concerns the gene CEP290 and ciliopathy.