Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spe...
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Published in | The European respiratory journal Vol. 44; no. 6; pp. 1579 - 1588 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Leeds
Maney
01.12.2014
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Abstract | Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spectrum of HVMA findings in PCD from grossly abnormal to very subtle. The objective of this study was to describe the diversity of HVMA findings in genetically confirmed PCD individuals. HVMA was performed as part of the routine work-up of individuals with suspected PCD. Subsequent molecular analysis identified biallelic mutations in the PCD-related genes of 66 individuals. 1072 videos of these subjects were assessed for correlation with the genotype. Biallelic mutations (19 novel) were found in 17 genes: DNAI1, DNAI2, DNAH5, DNAH11, CCDC103, ARMC4, KTU/DNAAF2, LRRC50/DNAAF1, LRRC6, DYX1C1, ZMYND10, CCDC39, CCDC40, CCDC164, HYDIN, RSPH4A and RSPH1. Ciliary beat pattern variations correlated well with the genetic findings, allowing the classification of typical HVMA findings for different genetic groups. In contrast, analysis of ciliary beat frequency did not result in additional diagnostic impact. In conclusion, this study provides detailed knowledge about the diversity of HVMA findings in PCD and may therefore be seen as a guide to the improvement of PCD diagnostics. |
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AbstractList | Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spectrum of HVMA findings in PCD from grossly abnormal to very subtle. The objective of this study was to describe the diversity of HVMA findings in genetically confirmed PCD individuals.HVMA was performed as part of the routine work-up of individuals with suspected PCD. Subsequent molecular analysis identified biallelic mutations in the PCD-related genes of 66 individuals. 1072 videos of these subjects were assessed for correlation with the genotype.Biallelic mutations (19 novel) were found in 17 genes: DNAI1, DNAI2, DNAH5, DNAH11, CCDC103, ARMC4, KTU/DNAAF2, LRRC50/DNAAF1, LRRC6, DYX1C1, ZMYND10, CCDC39, CCDC40, CCDC164, HYDIN, RSPH4A and RSPH1. Ciliary beat pattern variations correlated well with the genetic findings, allowing the classification of typical HVMA findings for different genetic groups. In contrast, analysis of ciliary beat frequency did not result in additional diagnostic impact.In conclusion, this study provides detailed knowledge about the diversity of HVMA findings in PCD and may therefore be seen as a guide to the improvement of PCD diagnostics. Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spectrum of HVMA findings in PCD from grossly abnormal to very subtle. The objective of this study was to describe the diversity of HVMA findings in genetically confirmed PCD individuals. HVMA was performed as part of the routine work-up of individuals with suspected PCD. Subsequent molecular analysis identified biallelic mutations in the PCD-related genes of 66 individuals. 1072 videos of these subjects were assessed for correlation with the genotype. Biallelic mutations (19 novel) were found in 17 genes: DNAI1, DNAI2 , DNAH5 , DNAH11 , CCDC103 , ARMC4 , KTU/DNAAF2 , LRRC50/DNAAF1 , LRRC6 , DYX1C1 , ZMYND10 , CCDC39, CCDC40, CCDC164, HYDIN , RSPH4A and RSPH1 . Ciliary beat pattern variations correlated well with the genetic findings, allowing the classification of typical HVMA findings for different genetic groups. In contrast, analysis of ciliary beat frequency did not result in additional diagnostic impact. In conclusion, this study provides detailed knowledge about the diversity of HVMA findings in PCD and may therefore be seen as a guide to the improvement of PCD diagnostics. |
Author | RAIDT, Johanna WALLMEIER, Julia HJEIJ, Rim HÄFFNER, Karsten PENNEKAMP, Petra OLBRICH, Heike WERNER, Claudius DOUGHERTY, Gerard W OMRAN, Heymut LOGES, Niki T ONNEBRINK, Jörg Grosse |
Author_xml | – sequence: 1 givenname: Johanna surname: RAIDT fullname: RAIDT, Johanna organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 2 givenname: Julia surname: WALLMEIER fullname: WALLMEIER, Julia organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 3 givenname: Claudius surname: WERNER fullname: WERNER, Claudius organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 4 givenname: Rim surname: HJEIJ fullname: HJEIJ, Rim organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 5 givenname: Jörg Grosse surname: ONNEBRINK fullname: ONNEBRINK, Jörg Grosse organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 6 givenname: Petra surname: PENNEKAMP fullname: PENNEKAMP, Petra organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 7 givenname: Niki T surname: LOGES fullname: LOGES, Niki T organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 8 givenname: Heike surname: OLBRICH fullname: OLBRICH, Heike organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 9 givenname: Karsten surname: HÄFFNER fullname: HÄFFNER, Karsten organization: Dept of Pediatrics, University Hospital Freiburg, Freiburg, Germany – sequence: 10 givenname: Gerard W surname: DOUGHERTY fullname: DOUGHERTY, Gerard W organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany – sequence: 11 givenname: Heymut surname: OMRAN fullname: OMRAN, Heymut organization: University Children's Hospital Münster, Dept of General Pediatrics, Pediatric Pulmonology Unit, Münster, Germany |
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Keywords | Beat frequency Malformation Respiratory disease Genetic variant Situs inversus Immotile cilia syndrome ENT disease Congenital disease |
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Snippet | Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of... |
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SubjectTerms | Biological and medical sciences Cilia - physiology Complex syndromes Gene Frequency Genetic Variation Genotype Heterozygote Homozygote Humans Kartagener Syndrome - genetics Kartagener Syndrome - physiopathology Medical genetics Medical sciences Microscopy, Video Mutation Phenotype Pneumology |
Title | Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia |
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