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Cited by 147Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst DiseasesHereditary Neurological Disorders

Advances in the Genetics of Primary Ciliary Dyskinesia

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Horani, Amjad, Ferkol, Thomas W.·2018·Chest
DOI 10.1016/j.chest.2018.05.007PMC PMC6130327
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Abstract

Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly expanding collection of disorders known as ciliopathies. Patients with primary ciliary dyskinesia have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, left-right laterality defects, and infertility. In recent years, our understanding of the genetics of primary ciliary dyskinesia has rapidly advanced. A growing number of disease-associated genes and pathogenic mutations have been identified, which encode axonemal, cytoplasmic, and regulatory proteins involved in the assembly, structure, and function of motile cilia. Our knowledge of cilia genetics and the function of the proteins encoded has led to a greater understanding of the clinical manifestations of motile ciliopathies. These advances have changed our approach toward diagnostic testing for primary ciliary dyskinesia. In this review, we will describe how new insights into genetics have allowed us to define the clinical features of primary ciliary dyskinesia, revolutionize diagnostics, and reveal previously unrecognized genotype-phenotype relationships in primary ciliary dyskinesia.

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Cited by

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Authors
Horani, A., & Ferkol, T. W.
Affiliations
Washington University in St. Louis (US)
Corresponding author
Ferkol, Thomas W.
ORCID
Venue
Chest
Publisher
Elsevier BV
Published
2018-09
Volume
154
Issue
3
Pages
645-652
ISSN
0012-3692 (ISSN-L)
DOI
10.1016/j.chest.2018.05.007
PMC
PMC6130327
OpenAlex
W2804677703
Cited by
147
References
1
Citations by year
2026: 14 · 2025: 18 · 2024: 9 · 2023: 20 · 2022: 21 · 2021: 27 · 2020: 19 · 2019: 19
FWCI
2.99
Type
journal article
Language
en
Open access
Licence
Locations
  • CHEST Journal (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Heart, Lung, and Blood Institute (U54HL096458, R01HL116211)
Topics
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
primary ciliary dyskinesia, ciliopathies, motile cilia, axonemal proteins, disease-associated genes, pathogenic variants, genotype-phenotype correlation, left-right asymmetry, infertility, chronic respiratory disease, genetic diagnosis
MeSH terms
Genetic Testing, Genotype, Humans, Kartagener Syndrome, Phenotype

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