Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the
disease-causing mutations identified to date involve the heavy (dynein axonemal heavy
chain 5) or intermediate (dynein axonemal intermediate chain 1) chain dynein genes in
ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical
molecular genetic testing for primary ciliary dyskinesia is available for the most common
mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis …