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Fig. 2 | Cilia

Fig. 2

From: Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Fig. 2

Ciliary phenotype in URECs. URECs derived from the patient (II-3) were compared to URECs from three control individuals (C1–3). a Representative image of URECs stained for ciliary markers, i.e., acetylated-α-tubulin (red) and RPGRIP1L (green). b Ciliary length measurements based on the acetylated-α-tubulin staining of the cilium. The dots represent individual cells and the horizontal line indicates the mean (N ≥ 100). Significance was measured using the unpaired two-tailed t test; C1 compared to C2 p < 0.0397; C1 compared to C3 p < 0.0001; C2 compared to C3 p < 0.0001; C1 compared to II-3 p < 0.0345; C2 compared to II-3 p < 0.9458; C3 compared to II-3 p < 0.0001. c Presence of IFT140 in the cilium. Parents (I-1 and I-2) are included in the analysis. Scale bar represents 5 µm. d Cilia were visualized with acetylated-α-tubulin (red) and RPGRIP1L (pink). The cells were analyzed for the presence of IFT88 (green) accumulation at the ciliary tip. Patient II-3 showed a significant accumulation of IFT88 in 41% of the cells (Fisher’s exact two-tailed test showed a p < 0.0001 when comparing the cells of the patient to those of the controls). Scale bar represents 5 µm

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