Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.

Journal Article (Review)

Primary ciliary dyskinesia (PCD) is a ciliopathy, but represents the sole entity from this class of disorders that results from the dysfunction of motile cilia. Characterized by respiratory problems appearing in childhood, infertility, and situs defects in ~50% of individuals, PCD has an estimated prevalence of approximately 1 in 10,000 live births. The diagnosis of PCD can be prolonged due to a lack of disease awareness, coupled with the fact that symptoms can be confused with other more common genetic disorders, such as cystic fibrosis, or environmental insults that result in frequent respiratory infections. A primarily autosomal recessive disorder, PCD is genetically heterogeneous with >30 causal genes identified, posing significant challenges to genetic diagnosis. Here, we provide an overview of PCD as a disorder underscored by impaired ciliary motility; we discuss the recent advances towards uncovering the genetic basis of PCD; we discuss the molecular knowledge gained from PCD gene discovery, which has improved our understanding of motile ciliary assembly; and we speculate on how accelerated diagnosis, together with detailed phenotypic data, will shape the genetic and functional architecture of this disorder.

Full Text

Duke Authors

Cited Authors

  • Praveen, K; Davis, EE; Katsanis, N

Published Date

  • January 2015

Published In

Volume / Issue

  • 7 /

Start / End Page

  • 36 -

PubMed ID

  • 25926987

Electronic International Standard Serial Number (EISSN)

  • 2051-7599

International Standard Serial Number (ISSN)

  • 2051-7599

Digital Object Identifier (DOI)

  • 10.12703/p7-36

Language

  • eng