Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

A Shoemark, H Griffin, G Wheway… - European …, 2022 - Eur Respiratory Soc
Background Bronchiectasis can result from infectious, genetic, immunological and allergic
causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile …

[HTML][HTML] Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

G Wheway, NS Thomas, M Carroll, J Coles… - BMC Medical …, 2021 - Springer
Background It is estimated that 1–13% of cases of bronchiectasis in adults globally are
attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis …

[HTML][HTML] Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

M Andjelkovic, P Minic, M Vreca, M Stojiljkovic… - PloS one, 2018 - journals.plos.org
Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder
that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic …

[HTML][HTML] Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

M Contarini, A Shoemark, J Rademacher… - Multidisciplinary …, 2018 - Springer
Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or
allergic disorders. Accurate and prompt identification of the underlying cause is a key …

Genetic causes of bronchiectasis: primary ciliary dyskinesia

HN Morillas, M Zariwala, MR Knowles - Respiration, 2007 - karger.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder reflecting
abnormalities in the structure and function of motile cilia and flagella, causing impairment of …

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

WB Hannah, BA Seifert, R Truty… - The Lancet …, 2022 - thelancet.com
Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterised by
otosinopulmonary infections. Inheritance is commonly autosomal recessive, with extensive …

An international registry for primary ciliary dyskinesia

C Werner, M Lablans, M Ataian, J Raidt… - European …, 2016 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic
upper and lower airway disease. Fundamental data on epidemiology, clinical presentation …

Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype

SD Davis, M Rosenfeld, HS Lee, TW Ferkol… - American journal of …, 2019 - atsjournals.org
Rationale: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly
understood. Objectives: To describe early lung disease progression in primary ciliary …

Diagnosis of primary ciliary dyskinesia: searching for a gold standard

JS Lucas, MW Leigh - European Respiratory Journal, 2014 - Eur Respiratory Soc
Significant advances have been made in the diagnosis of patients with primary ciliary
dyskinesia (PCD) including centralised services [ 1–3], European consensus guidelines [4] …

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia

J Djakow, L Kramná, L Dušátková, J Uhlík… - Pediatric …, 2016 - Wiley Online Library
Background Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition
affecting respiratory tract and other organs where ciliary motility is required. The extent of its …