Fig. 2

KIF5B variants cause an aberrant primary cilium morphology. Confocal images showing altered primary cilium morphology in patients’ fibroblasts compared to control cells. Specifically, cilia with altered morphology (either short or characterized by a basal body in absence of any visible cilium [dot cilium], zoomed images) were invariably observed in fibroblasts heterozygous for the variants encoding KIF5B^Leu537Pro and KIF5B^Asn255del. Similarly, primary fibroblasts carrying the KIF5B^Leu498Pro protein showed a large proportion of cells having cilia altered in length and thickness (zoomed images). Primary cilia are labeled with ARL13B (red), basal bodies and nuclei are labeled with pericentrin (green) and DAPI (blue), respectively. Scale bars are respectively 10 μm (left) and 2 μm (right). Cells were analyzed for each line over three independent experiments (50 cells/line each) for a total of 150 cells/line scored. P values were calculated by one-way ANOVA with Tukey’s correction for multiple testing. Graph bars show mean ± SEM.