In all affected individuals, we identified biallelic TCTEX1D2 null alleles, which is in striking contrast to JATD and SRPS individuals carrying mutations in other IFT dynein genes such as DYNC2H1 (refs 15, 16, 34, 38, 39, 39), WDR34 (refs 12, 13), WDR60 (ref. 14) or in genes encoding IFT-A21 and IFT-B18, 20 components. Here, DYNC2I1 is linked to Jeune syndrome.