Based on our human and zebrafish data, we searched for possible mutations in JAG1 in 2 cohorts of patients with CHH/KS and identified 9 heterozygous putative pathogenic RSVs (R117G, F206Y, Y931I, D1160N, R2L, F509A, R543H, T962A, H1013L). This evidence concerns the gene JAG1 and cartilage-hair hypoplasia.