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. 2020 Nov 1;41(12):2179–2194. doi: 10.1002/humu.24127

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© 2020 The Authors. Human Mutation published by Wiley Periodicals LLC

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Reduced fraction of ciliated cells and increased primary cilia length in fibroblasts from patients. (a) Fibroblasts from two controls (images from one control shown) and from the individuals FA.II‐1, FA.II‐2, FB.II‐2 were fixed after 72 h of serum starvation and stained for ARL13B and CEP164 (Alexa488, green), CBY1 (Cy3, red), and nuclei (Hoechst, blue). The CBY1 signal was detected at the transition zone in the control, but not in cells from FA.II‐1, FA.II‐2, FB.II‐2. Scale bars are 10 µm in the left panel and 2 µm in the magnified pictures. (b) Fibroblasts from two controls and from the affected individuals FA.II‐1, FA.II‐2, FB.II‐2 were fixed after 72h serum starvation and stained for acetylated tubulin, CEP164, and nuclei (Hoechst). The numbers of ciliated fibroblasts were significantly reduced in FA.II‐1, FA.II‐2, and FB.II‐2 (p < .0001) compared with the two pooled controls (C in the figure). The numbers of cells analyzed are indicated on top of the bars. (c) Staining for ARL13B and polyglutamylated tubulin and nuclei (Hoechst) detected a significant increase in ciliary length in serum‐starved fibroblasts from the affected individuals FA.II‐1, FA.II‐2, FB.II‐2 compared with the two pooled controls (C). Median length difference between cilia in cells from affected individuals and control cells were 0.44, 0.43, and 1.65 µm, respectively (p < .0001). The numbers of cells analyzed are indicated on top. (d) Intensity measurement for AHI1 costained with polyglutamylated tubulin and Hoechst detected significantly reduced AHI1 signal intensities in serum‐starved fibroblasts from FA.II‐1, FA.II‐2, and FB.II‐2 compared with the two pooled controls (C) (p < .0001). The numbers of cilia analyzed are indicated on top of the bars. (e) Intensity measurements for ARL13B costained with polyglutamylated tubulin and Hoechst detected significantly reduced ARL13B signal intensities in serum‐starved fibroblasts from FA.II‐1, FA.II‐2, and FB.II‐2 compared with the two pooled controls (C) (p < .0001). The numbers of cilia analyzed are indicated on top of the bars