Defects in ciliated cells, particularly in the respiratory cilia
Symptoms Recurrent infection of the upper and lower respiratory tract (sneezing, nasal discharge, cough and chronic bronchitis), hydrocephalus, reduced fertility in males
Gene involved CCDC39
Mutation tested c.286C>T
Transmission mode : Autosomal recessive
Publication : Merveille et al. (2011). CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Gene involved NME5
Mutation tested c.43delA
Transmission mode : Autosomal recessive
Publication : Anderegg et al. (2019). NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.