Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

J Appl Genet. 2004;45(3):347-61.


Primary ciliary dyskinesia (PCD) is a multisystem disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male subfertility, associated in about 50% patients with situs inversus totalis (the Kartagener syndrome). The disease phenotype is caused by ultrastructural defects of respiratory cilia and sperm tails. PCD is a heterogenetic disorder, usually inherited as an autosomal recessive trait. So far, mutations in two human genes have been proved to cause the disease. However, the pathogenetics of most PCD cases remains unsolved. In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 11 / genetics
  • Chromosomes, Human, Pair 5 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Cilia / genetics
  • Cilia / ultrastructure
  • Ciliary Motility Disorders / genetics*
  • Disease Models, Animal
  • Humans