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. 2020 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691

Fig 3. The pathogenic variant in CFAP57 results in a shorter protein that does not assemble into the axoneme and results in an altered ciliary beat.

Fig 3

(A) (left) RT-PCR analysis of the subject mRNA. (right) Sequence analysis of PCR product demonstrates the skipping of exon 11 (r.1758_1931del; p.Ile586_Lys643del). Sequences are shown in the reverse complement direction. (B) Immunoblotting demonstrates the presence of a mutant form of CFAP57 protein in nasal cell lysates from the PCD subject and (B’) the lack of CFAP57 in the isolated ciliary axonemal fraction. Approximate sizes based on migration of size standards are shown. (C) Immunofluorescence of cultured nasal epithelial cells shows the absence of CFAP57 (magenta) in ciliated cells from the PCD 2-II subject compared to control cells. (D) High-resolution videos of control and PCD 2-II ciliated cells were examined. Compared to control cells, PCD 2-II cells show heterogeneous waveforms. In some cilia the waveform was symmetrical (blue arrows, abnormal) while in other cilia the wave form showed a normal pattern. Scale bar = 2 μm.