Genetics and biology of primary ciliary dyskinesia. (March 2016)

• Record Type: Journal Article
• Authors: Horani, Amjad; Ferkol, Thomas W.; Dutcher, Susan K.; Brody, Steven L.
• Is Part Of: Paediatric respiratory reviews. Volume 18(2016)
• Page Start: 18
• Page End: 24
• Publication Date: 2016-03
• Subjects: Cilia -- Primary ciliary dyskinesia -- Ciliogenesis -- Genetic sequencing -- Genetic testing -- Rare lung disease; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2015.09.001
• Languages: English
• ISSNs: 1526-0542

Abstract

Summary: 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.