Figure 4.

Immunofluoresence (IF) microscopy images showing a) normal IF antibody staining with anti-DNALI1 (inner dynein arm (IDA) protein), anti-DNAH5 (outer dynein arm (ODA) protein) and anti-GAS8 (nexin–dynein regulatory complexes (N-DRC) protein) in the first column of images, with anti-tubulin (cilial structural protein) staining in the second column, and merged images demonstrating co-localisation of these in the third column. b–d) The first column of images shows merged IF staining for these proteins in PCD patients with their respective transmission electron microscopy (TEM) findings in the second column. b and c) From a patient with DNAAF4 mutation, known to cause both an ODA and IDA defect, where b) the anti-DNALI staining is present but is in the cell itself, not in the cilia and c) anti-DNAH5 staining is absent. d) From a patient with a CCDC39 mutation, known to cause microtubular disorganisation with IDA defect, with weak GAS8 staining seen in the cell, but again not in the cilia. Reproduced with kind permission of Janice Coles (University of Southampton & University Hospital Southampton NHS Foundation Trust, Southampton, UK).