Journal of Applied Genetics 45(3), 2004, pp. 347-361

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

Maciej Geremek, Michal Witt

Abstract: 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.

Key words: candidate genes, cilia, ciliary ultrastructure, Kartagener syndrome, lateralization defects, primary ciliary dyskinesia.

Correspondence: M Geremek, Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland; e-mail: macgerem@iimcb.gov.pl