A total of 109 affected individuals of JATD/SRPS (representing Saudi and European cohorts) were analyzed by exome sequencing, autozygosity mapping and/or Sanger sequencing of CEP120. This ‘replication’ cohort proved complementary in that two additional families (Family 3 and Family 4) were found to carry the same CEP120 variant described above. This evidence concerns the gene CEP120 and Jeune syndrome.