Analysis of a further 154 JATD/SRPS exomes and Sanger sequencing of TCTEX1D2 in 69 additional JATD/SRPS cases, previously excluded for mutations in known JATD and SRPS genes, detected compound-heterozygous variants in TCTEX1D2 in individual INS II.1 from a non-consanguineous French family comprising a nonsense (c.262C>T; p.Arg88*) and a deletion-insertion frameshift alteration (c.100delinsCT; p.Val34Leufs*12; Supplementary Fig. 1b). Here, DYNLT2B is linked to Jeune syndrome.