Of note, Cep120 was found to interact with Talpid3,42 the homologue of human KIAA0586, in which mutations give rise to a similar spectrum of ciliopathies, ranging from a mild, pure JS to a more complex phenotype with overlapping features of JS and JATD.27–31 This increasing range of phenotypes associated with mutations in one and the same gene argues for the need of broad next-generation sequencing-based approaches, to allow the detection of novel, rare phenotypes associated with ciliary gene mutations. This evidence concerns the gene CEP120 and Jeune syndrome.