Extended Data Fig. 7: Primary ciliary dyskinesia (PCD) patient information.
From: Axonemal structures reveal mechanoregulatory and disease mechanisms
a, Integrative Genomics Viewer (IGV) snapshot illustrating the homozygous exon 1–3 deletion in the CCDC40 gene of patient ID03. b, Analysis of high-speed video data from PCD patients showing defects in epithelia consistency, cilia beat frequency, beat angle, and amplitude compared to healthy, non-PCD controls. The box represents the interquartile range, the center represents the median, and the whiskers represent minimum and maximum measurements. Statistical significance was determined by one-way ANOVA (non-parametric Kruskal-Wallis), with * P ≤ 0.05, ** P ≤ 0.01, *** P ≤ 0.001 and **** P ≤ 0.0001. The number of movies used for the analysis were 104 (control); 3 (ODAD1 s); 8 (ODAD1 n); 8 (CCDC40), and 6 (CCDC39). For each mutation, the movies came from the same patient. ODAD1 (s) refers to individual ID01 with a splice mutation, and ODAD1 (n) refers to individual ID02 with a nonsense mutation in ODAD1. c, Representative clinical transmission electron microscopy (TEM) images selected from a minimum of >100 screened cross-sections showing axoneme cross sections from a non-PCD control (with axonemal complexes labeled), two individuals with mutations in ODAD1 (ID01 and ID02), an individual with a mutation in CCDC40 (ID03), and an individual with a mutation in CCDC39 (ID04). Red arrows mark the absence of outer dynein arms (ODAs). Orange arrows mark microtubule (MT) transposition. Yellow arrows mark the absence of inner dynein arms (IDAs). Purple arrows mark an abnormal central apparatus (CA). d, Compared to a non-PCD control, radial spokes (blue arrows) attached to doublet microtubules in individual ID03 (with a CCDC40 mutation) are intermittently bound, consistent with the loss of strict 96-nm periodicity. These micrographs sections were selected from a total of 37,071 non-PCD control micrographs, and 3,483 CCDC40 micrographs.
