More recently, mutations in Cep120 were identified in patients with ciliopathy phenotypes, namely Joubert syndrome and Jeune Asphyxiating Thoracic Dystrophy (Roosing et al., 2016; Shaheen et al., 2015), further highlighting a critical role in centriole-centrosome-cilia biology. This evidence concerns the gene CEP120 and Joubert syndrome.