In a previous study to screen causal genes for ATD, EVC and SRPS spectrum in 152 unrelated families by using exome sequencing, mutations in DYNC2H1 were found in 43 SRPS families (40 with SRPS type III), and 110 different pathogenic mutations in DYNC2H1 were identified, two thirds of which were missense mutations and mainly clustered in the N-terminal tail, the AAA2-4 ATPase domains and the conserved C-terminal domain (C domain) [9]. This evidence concerns the gene DYNC2H1 and Jeune syndrome.