Recently, two missense mutations (V194A and A199P) in CEP120 have been identified to give rise to either Joubert syndrome (JS; V194A), which manifests mainly neurologically, or Jeune asphyxiating thoracic dystrophy (JATD; A199P), which primarily affects bone development (Roosing et al., 2016, Shaheen et al., 2015). This evidence concerns the gene CEP120 and Jeune syndrome.