Moreover, Cep120 mutations were recently identified in two ciliopathy syndromes, namely Joubert Syndrome (JS) and Jeune Asphyxiating Thoracic Dystrophy (JATD); patients display multi-organ pathologies including severe congenital renal developmental defects and fibrotic kidney disease (Roosing et al, 2016; Shaheen et al, 2015). The gene discussed is CEP120; the disease is ciliopathy.