Some reports documented that a CSPP1mutation is the main cause of Joubert syndrome (JBTS), a type of invisible cilia and Jeune asphyxiating thoracic dystrophy (JATD) [27], whereas overexpression of CSPP1 in hTERT-RPE cells can result in longer cilia [57]. This evidence concerns the gene CSPP1 and Jeune syndrome.