Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

• Authors: M. Geremek , M. Witt
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

CANDIDATE GENE; CILIA; KARTAGENER SYNDROME; PRIMARY CILIARY DYSKINESIA; ULTRASTRUCTURE

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2004
• Volume: 45
• Issue: 3
• Pages: 347-361

Contributors

author

M. Geremek

author

M. Witt

• Document Type: REVIEW
• Publication order reference: M Geremek, Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland