Ultrastructural analyses of DYX1C1-mutant motile cilia demonstrate disruptions in outer and inner dynein arm (ODA/IDA) complexes. DYX1C1 localizes to the cytoplasm of respitatory epithelial cells and interacts with the cytoplasmic ODA/IDA assembly factor KTU (DNAAF2). We suspect that DYX1C1 functions in cytoplasmic pre-assembly of axonemal dynein complexes. Cilia with loss-of-function mutations show severe decrease in amplitude and frequency, most of them are complete immotile. Other DYX1C1 mutations result in defects of only distal axonemal ODA/IDA components. In these hypomorphic mutations, ciliary beat shows only slight reductions of beat frequency and amplitude.
Homozygous mutation c.583delA; p.Ile195*: video 1.
Homozygous mutation c.583delA; p.Ile195*: video 2.
Homozygous mutation c.583delA; p.Ile195* + c.583delA; p.Ile195*: video 3.
Homozygous mutation c.583delA; p.Ile195* + c.583delA; p.Ile195*: video 4.
Homozygous mutation c.583delA; p.Ile195*: video 5.
Homozygous mutation c.583delA; p.Ile195*: video 6.
Homozygous mutation c.583delA; p.Ile195*: video 7.
Compound heterozygous mutations 384C>A; p.Tyr128* + c.485G>A; Trp162*: video 1.
Compound heterozygous mutations 384C>A; p.Tyr128* + c.485G>A; Trp162*: video 2.
Compound heterozygous mutations 384C>A; p.Tyr128* + c.485G>A; Trp162*: video 3.
Compound heterozygous mutations 384C>A; p.Tyr128* + c.485G>A; Trp162*: video 4.
Compound heterozygous mutations 384C>A; p.Tyr128* + c.485G>A; Trp162*: video 5.
