Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Erin Cant; Amelia Shoemark; James D. Chalmers

doi:10.1007/s13665-023-00332-x

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Erin Cant
, Amelia Shoemark
, James D. Chalmers (Lead / Corresponding author)

Respiratory Medicine and Gastroenterology

Research output: Contribution to journal › Review article › peer-review

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Abstract

Purpose of Review: Advances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice.

Recent Findings: This review describes > 50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with worse prognosis (CCDC39, CCDC40, CCNO). Features which indicate referral for genetic testing such as a family history, situs defects and lifelong chronic upper and lower respiratory tract disease are described along with how genetics fits into current guidelines for diagnostic algorithms, and the potential challenges and advantages.

Summary: As we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.

Original language	English
Pages (from-to)	57-66
Number of pages	10
Journal	Current Pulmonology Reports
Volume	13
Early online date	16 Jan 2024
DOIs	https://doi.org/10.1007/s13665-023-00332-x
Publication status	Published - Mar 2024

Keywords

Primary cilia dyskinesia
Motile ciliopathy
Genetics
Mucociliary clearance
Respiratory condition
Inherited disorder

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10.1007/s13665-023-00332-xLicence: CC BY

Final Published VersionFinal published version, 1.96 MBLicence: CC BY

Characterisation of Mucociliary Clearance in Chronic Lung Disease
Cant, E. (Author), Shoemark, A. (Supervisor) & Chalmers, J. (Supervisor), 2025
Student thesis: Doctoral Thesis › Doctor of Philosophy

Cite this

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title = "Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice",

abstract = "Purpose of Review: Advances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice. Recent Findings: This review describes > 50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with worse prognosis (CCDC39, CCDC40, CCNO). Features which indicate referral for genetic testing such as a family history, situs defects and lifelong chronic upper and lower respiratory tract disease are described along with how genetics fits into current guidelines for diagnostic algorithms, and the potential challenges and advantages. Summary: As we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.",

keywords = "Primary cilia dyskinesia, Motile ciliopathy, Genetics, Mucociliary clearance, Respiratory condition, Inherited disorder",

author = "Erin Cant and Amelia Shoemark and Chalmers, \{James D.\}",

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year = "2024",

month = mar,

doi = "10.1007/s13665-023-00332-x",

language = "English",

volume = "13",

pages = "57--66",

journal = "Current Pulmonology Reports",

issn = "2199-2428",

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TY - JOUR

T1 - Primary Ciliary Dyskinesia

T2 - Integrating Genetics into Clinical Practice

AU - Cant, Erin

AU - Shoemark, Amelia

AU - Chalmers, James D.

PY - 2024/3

Y1 - 2024/3

N2 - Purpose of Review: Advances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice. Recent Findings: This review describes > 50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with worse prognosis (CCDC39, CCDC40, CCNO). Features which indicate referral for genetic testing such as a family history, situs defects and lifelong chronic upper and lower respiratory tract disease are described along with how genetics fits into current guidelines for diagnostic algorithms, and the potential challenges and advantages. Summary: As we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.

AB - Purpose of Review: Advances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice. Recent Findings: This review describes > 50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with worse prognosis (CCDC39, CCDC40, CCNO). Features which indicate referral for genetic testing such as a family history, situs defects and lifelong chronic upper and lower respiratory tract disease are described along with how genetics fits into current guidelines for diagnostic algorithms, and the potential challenges and advantages. Summary: As we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.

KW - Primary cilia dyskinesia

KW - Motile ciliopathy

KW - Genetics

KW - Mucociliary clearance

KW - Respiratory condition

KW - Inherited disorder

U2 - 10.1007/s13665-023-00332-x

DO - 10.1007/s13665-023-00332-x

M3 - Review article

SN - 2199-2428

VL - 13

SP - 57

EP - 66

JO - Current Pulmonology Reports

JF - Current Pulmonology Reports

ER -

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Abstract

Keywords

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Student theses

Characterisation of Mucociliary Clearance in Chronic Lung Disease

Cite this