DYNC2LI1 and spondyloepimetaphyseal dysplasia: We were therefore not surprised to see that the expression levels of genes linked to skeletal ciliopathies were abnormal in models of ACH compared to controls; these genes included Dync2li1 (the pathogenic gene in short rib polydactyly syndrome) and Kif22 (the pathogenic gene in spondyloepimetaphyseal dysplasia with joint laxity).41,42