Fig. 1

Phenotype and genetics individual 1. a X-Ray image showing situs inversus and left convex scoliosis. b Low magnification electron micrograph of biopsy from nasal respiratory mucosa showing hyperplasia of goblet cells (GC), reduced number of cilia and increased number of microvilli (mv). c High magnification electron micrograph of a cilium from the epithelial cells showing lack of outer dynein arms and normal inner dynein arms (arrowheads), normal radial spokes and central pair. Scale bar = 200 nm. d Pedigree. Individual 1 (arrow) has PCD (black) and DD (gray). The father and the niece are affected by DD (gray). Unaffected individuals are shown in white. The genotypes of the two variants in DNAH5 are indicated in the affected individual and in the unaffected brother (G > C denotes c.7502G > C, T > G denotes c.12043 T > G, Wt denotes wildtype). e Sanger DNA sequencing chromatogram of individual 1 and controls. f Schematic representation of the domains of DNAH5 and localization of the amino acid substitutions p.(R2501P) and p.(Y4015D). N=N-terminus, C=C-terminus, MTB = microtubule-binding domain, P1-P6 = P-loops 1–6