ArticleThe European respiratory journal2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
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Article in The European respiratory journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 4 of them syntheses that pooled it.
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48 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Nutrition and growth of primary ciliary dyskinesia patients: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice.Pediatric pulmonology · 2026Guideline
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature.European respiratory review : an official journal of the European Respiratory Society · 2025Pooled it
- Bone Health in Young Individuals with Primary Ciliary Dyskinesia: Insights from a Comparison with Cystic Fibrosis and Healthy Controls.Hormone research in paediatrics · 2026Trial
- DNAAF19-RUVBL1/2 complex recruits multiple adaptors to promote dynein arm assembly.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Pulmonary exacerbations in primary ciliary dyskinesia.European journal of pediatrics · 2026Review
- mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo.American journal of respiratory cell and molecular biology · 2026Article
- Treatable traits-based management of bronchiectasis: moving from theory to clinical practice.Chinese medical journal pulmonary and critical care medicine · 2026Review
- Advances in Health-Related Quality of Life in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Comparing Multiple Breath Washout Parameters in a Matched Cohort of Children With Cystic Fibrosis and Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Article
- Pulmonary Exacerbations and Treatment in PCD: A Narrative Review.Pediatric pulmonology · 2026Review
- Utilising human cellular models of primary ciliary dyskinesia: a scoping review.European respiratory review : an official journal of the European Respiratory Society · 2026Article
- First neonatal case of primary ciliary dyskinesia caused by a pathogenic DRC1 variant presenting with recurrent atelectasis and airway hypersecretion: a case report and literature review.BMC pediatrics · 2026Review
- Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Article
- Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2026Article
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.Brain structure & function · 2026Article
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Authors and funding
66 authors.
Johanna RaidtDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Sarah RiepenhausenInstitute of Medical Informatics, University of Muenster, Muenster, Germany.
Petra PennekampDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Heike OlbrichDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Israel AmiravDepartment of Pediatrics, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID https://orcid.org/0000-0002-6917-5285
Rodrigo A AthanazioPulmonary Division - Heart Institute, Hospital das Clínicas da Faculdade de São Paulo, São Paulo, Brazil.ORCID https://orcid.org/0000-0002-9399-5275
Micha AviramPediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Israel.
Juan E BalinottiRespiratory Center, Ricardo Gutiérrez Children's Hospital, Buenos Aires, Argentina.
Ophir Bar-OnPulmonary Institute, Schneider Children's Medical Center of Israel, Petach-Tikva, Israel.ORCID https://orcid.org/0000-0001-7259-4539
Sebastian F N BodeCenter for Pediatrics - Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Mieke BoonDepartment of Paediatrics, University Hospital, Leuven, Belgium.
Melissa BorrelliDepartment of Translational Medical Sciences, Pediatric Pulmonology, Federico II University, Naples, Italy.
Siobhan B CarrDepartment of Paediatric Respiratory Medicine and Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK.ORCID https://orcid.org/0000-0003-0580-2478
Suzanne CrowleyPaediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway.
Eleonora DehlinkDivision of Pediatric Pulmonology, Allergy and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Sandra DiepenhorstDepartment of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Peter DurdikDepartment of Paediatrics, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia.
Bernd DworniczakDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Nagehan EmiralioğluDivision of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.ORCID https://orcid.org/0000-0002-1405-8401
Ela ErdemDepartment of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey.
Rossella FonnesuDepartment of Paediatrics, University Hospital of Pisa, Pisa, Italy.
Serena GracciDepartment of Paediatrics, University Hospital of Pisa, Pisa, Italy.
Jörg Große-OnnebrinkDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Karolina GwozdziewiczDepartment of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland.
Eric G HaarmanDepartment of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Christine R HansenDepartment of Pediatrics, Institution of Clinical Sciences, Lund University, Lund, Sweden.
Claire HoggDepartment of Paediatric Respiratory Medicine and Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK.
Mathias G HolgersenDanish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID https://orcid.org/0000-0001-9944-6253
Eitan KeremDepartment of Pediatrics and Pediatric Pulmonology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.ORCID https://orcid.org/0000-0002-4635-386X
Robert W KörnerDepartment of Pediatrics, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.
Karsten KötzDepartment of Pediatrics, Queen Silvias Children Hospital, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.ORCID https://orcid.org/0000-0001-5026-5267
Panayiotis KouisRespiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.ORCID https://orcid.org/0000-0003-0511-5352
Michael R LoebingerRoyal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College London, London, UK.
Natalie LorentDepartment of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.ORCID https://orcid.org/0000-0002-2653-5885
Jane S LucasClinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK.ORCID https://orcid.org/0000-0001-8701-9975
Debora MajDepartment of Paediatrics, University Hospital of Pisa, Pisa, Italy.
Marcus A MallDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID https://orcid.org/0000-0002-4057-2199
June K MarthinDanish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID https://orcid.org/0000-0002-4420-3091
Vendula MartinuDepartment of Paediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Henryk MazurekDepartment of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland.
Hannah M MitchisonGenetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.
Tabea Nöthe-MenchenDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Ugur ÖzçelikDivision of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Massimo PifferiDepartment of Paediatrics, University Hospital of Pisa, Pisa, Italy.
Andrzej PogorzelskiDepartment of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland.
Felix C RingshausenDepartment of Respiratory Medicine, Hannover Medical School (MHH), Hannover, Germany.ORCID https://orcid.org/0000-0001-9084-4968
Jobst F RoehmelDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID https://orcid.org/0000-0002-1535-8852
Sandra Rovira-AmigoPaediatric Pulmonology Section, Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.
Nisreen RummanDepartment of Pediatrics, Faculty of Medicine, Makassed Hospital, Al-Quds University, East Jerusalem, Palestine.
Anne SchlegtendalUniversity Children's Hospital, Ruhr University Bochum, Katholisches Klinikum Bochum, Bochum, Germany.ORCID https://orcid.org/0000-0002-6737-3624
Amelia ShoemarkRoyal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College London, London, UK.ORCID https://orcid.org/0000-0001-7360-6060
Synne Sperstad KennellyPaediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway.
Ben O StaarDepartment of Respiratory Medicine, Hannover Medical School (MHH), Hannover, Germany.
Sivagurunathan SutharsanDepartment of Pulmonary Medicine, Adult Cystic Fibrosis Center, University Hospital Essen - Ruhrlandklinik, University of Duisburg-Essen, Essen, Germany.
Simon ThomasWessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
Nicola UllmannPneumology and Cystic Fibrosis Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.
Julian VargheseInstitute of Medical Informatics, University of Muenster, Muenster, Germany.
Sandra von HardenbergDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Woolf T WalkerClinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK.
Martin WetzkeBiomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.
Michal WittInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Panayiotis YiallourosRespiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.
Anna ZschockeDepartment of Pediatric and Adolescent Medicine, Pediatrics III, Medical University, Innsbruck, Austria.
Ewa ZiętkiewiczInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Kim G NielsenDanish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Heymut OmranDepartment of General Pediatrics, University Hospital Muenster, Muenster, Germany Heymut.Omran@ukmuenster.de.ORCID https://orcid.org/0000-0003-0282-6765
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes.
methodsGenetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV
resultsThe study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV
conclusionThis unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.
Indexed as
Genetic Association StudiesGenotypePhenotypeAdolescentAdultAgedAxonemal DyneinsChildChild, PreschoolCytoskeletal ProteinsEuropeFemaleForced Expiratory VolumeGenetic VariationHumansInfantAxonemal DyneinsCCDC39 protein, humanCCDC40 protein, humanCytoskeletal ProteinsDNAH11 protein, humanProteins
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