Fig. 4: Impact on ciliogenesis by mutations in three high confidence candidate ciliopathies genes.

Immunofluorescence (IF) experiments on control (a,a’) and patient serum-starved fibroblasts (b–d) and (b’–d’) using the ciliary marker acetylated alpha tubulin (AC-α-tubulin). (b,b’) Patient 16DG0559 with LRRC34:NM_001172779:c.199A > T:p.(Lys67*) showing reduction in the ciliogenesis potential, but comparable ciliary length to control. (c,c’) Patient 16DG0790 with TTC23:NM_001288616.3:c.456-1G > T showing normal ciliogenesis but increased length of cilia compared with control. (d,d’) Patient 15DG2530 with TTC6:NM_001310135:c.3322C > T:p.(Arg1108*) showing marked reduction in ciliogenesis and ciliary length compared with control (200 cells were counted for each sample). (e) Percentage of ciliated cells in patient serum-starved fibroblasts compared with the control and (f) their average ciliary length. Patient 16DG0559 shows reduction in ciliogenesis potential and marginally significant reduction in ciliary length. Patient 16DG0790 shows normal ciliogenesis potential but significantly longer cilia. Patient 15DG2530 shows significant reduction in ciliogenesis potential and ciliary length (all experiments were performed in triplicates, and unpaired t test was used for statistical analysis).