Genetics and biology of primary ciliary dyskinesia

Paediatr Respir Rev. 2016 Mar;18:18-24. doi: 10.1016/j.prrv.2015.09.001. Epub 2015 Sep 11.


Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure and function. Our understanding of the complex genetic and functional phenotypes of these conditions has rapidly progressed. Primary ciliary dyskinesia (PCD) remains the sole genetic disorder of motile cilia dysfunction. However, unlike many Mendelian genetic disorders, PCD is not caused by mutations in a single gene or locus, but rather, autosomal recessive mutation in one of many genes that lead to a similar phenotype. The first reported PCD mutations, more than a decade ago, identified genes encoding known structural components of the ciliary axoneme. In recent years, mutations in genes encoding novel cytoplasmic and regulatory proteins have been discovered. These findings have provided new insights into the functions of the motile cilia, and a better understanding of motile cilia disease. Advances in genetic tools will soon allow more precise genetic testing, mandating that clinicians must understand the genetic basis of PCD. Here, we review genetic mutations, their biological impact on cilia structure and function, and the implication of emerging genetic diagnostic tools.

Keywords: Cilia; Ciliogenesis; Genetic sequencing; Genetic testing; Primary ciliary dyskinesia; Rare lung disease.

Publication types

  • Review

MeSH terms

  • Animals
  • Genetic Markers / genetics*
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods*
  • Humans
  • Kartagener Syndrome / diagnosis
  • Kartagener Syndrome / genetics*
  • Mutation*
  • Phenotype


  • Genetic Markers