Most SRPS and JATD cases result from mutations in genes encoding for dynein-2 components: the heavy chain DYNC2H1 [130], intermediate chains WDR34 [58,131] and WDR60 [60], the light intermediate chain DYNC2LI1 [132], and the light chain TCTEX1D2 [133]. The gene discussed is DYNC2H1; the disease is Jeune syndrome.