FIGURE 6.

Heterozygous pathogenic DNAAF6 variants in female carriers result in a mosaic of cells with and without axonemal outer dynein arm (ODA) defects. Transmission electron microscopy analysis of ciliary cross-sections from a) a control and b) female individual OP-1796 I3 carrying a heterozygous DNAAF6 variant show the absence of ODAs in more than half of the ciliated cells (n=391 of 581 sections, 67%) from the female carrier. Red arrows mark ODAs. A total of 581 ciliary cross-sections from OP-1796 I3 were analysed. White scale bars: 500 nm; black scale bars: 250 nm.