Recently, mutations in CEP120 were reported in four individuals diagnosed with Jeune asphyxiating thoracic dystrophy (JATD), a skeletal ciliopathy.12 Here we report the identification of mutations in the CEP120 gene in a spectrum of phenotypes ranging from mild classical JS to more severe conditions with overlapping features of distinct ciliopathies that include MKS, JATD and oral-facial-digital (OFD) syndromes. This evidence concerns the gene CEP120 and ciliopathy.