Fig. 5: The CEP83 variant causes defects in primary cilia. | npj Genomic Medicine

Fig. 5: The CEP83 variant causes defects in primary cilia.

From: A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant

Fig. 5

A Confocal imaging of wildtype (WT) and homozygous mutant primary fibroblasts showing staining for acetylated α-Tubulin (green), γ-Tubulin centrosome marker (red) and DAPI (blue); scale bar 10 μm; zoom-in of white rectangle below (scale bar 5μm). B Primary cilia length measurements in patient fibroblast (n = 2) compared to wildtype controls (n = 2); sample size WT column n = 50, Mutant column n = 58. Measurements were done in two separate independent experiments. Two tailed t-test (****p-value < 0.0001) C Cilia length distribution analysis categorized in groups of short (less than 3 μm) in blue, medium (3–4 μm) in light blue, long (4–6 μm) in orange, and extra-long (more than 6 μm) in pink.

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