Nasal NO, high-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete

Snijders, Deborah; Bertozzi, Ilaria; Barbato, Angelo

doi:10.1038/pr.2014.79

Cited by 2 publications

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“…In this context, the emerging genetic knowledge of PCD and the availability of next-generation sequencing (NGS) technologies have great potential to improve accuracy and robustness of PCD diagnosis as well as early patient assessment. 15 In this study, a custom NGS panel for the parallel screening of 24 PCD genes was designed and used to molecularly characterize a cohort of Italian PCD patients.…”

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confidence: 99%

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

Boaretto

Snijders

Salvoro

et al. 2016

The Journal of Molecular Diagnostics

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Primary ciliary dyskinesia (PCD) is a rare genetic disorder that alters mucociliary clearance, with consequent chronic disease of upper and lower airways. Diagnosis of PCD is challenging, and genetic testing is hampered by the high heterogeneity of the disease, because autosomal recessive causative mutations were found in 34 different genes. In this study, we clinically and molecularly characterized a cohort of 51 Italian patients with clinical signs of PCD. A custom next-generation sequencing panel that enables the affordable and simultaneous screening of 24 PCD genes was developed for genetic analysis. After variant filtering and prioritization, the molecular diagnosis of PCD was achieved in 43% of the patients. Overall, 5 homozygous and 27 compound heterozygous mutations, 21 of which were never reported before, were identified in 11 PCD genes. The DNAH5 and DNAH11 genes were the most common cause of PCD in Italy, but some population specificities were identified. In addition, the number of unsolved cases and the identification of only a single mutation in six patients suggest further genetic heterogeneity and invoke the need of novel strategies to detect unconventional pathogenic DNA variants. Finally, despite the availability of mutation databases and in silico prediction tools helping the interpretation of variants in next-generation sequencing screenings, a comprehensive segregation analysis is required to establish the in trans inheritance and support the pathogenic role of mutations.

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confidence: 99%

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

Boaretto

Snijders

Salvoro

et al. 2016

The Journal of Molecular Diagnostics

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“…As the number of genes increases, the North American Genetic Disorders of Mucociliary Clearance Consortium propose using nNO testing in patients with a clinical phenotype to identify patients likely to have PCD, followed by genetic testing to confirm the diagnosis, reserving HVMA and TEM for cases that are not identified by PCD multigene panel testing [15]. The diagnostic pathway remains controversial, for example some groups believe that HVMA should not be used in clinical practice but reserved as a research tool [20,21].…”

Section: Diagnosis Of Pcd: State Of the Artmentioning

confidence: 99%

Diagnostic Methods in Primary Ciliary Dyskinesia

Lucas

Paff

Goggin

et al. 2016

Paediatric Respiratory Reviews

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Educational Aims; The reader will be able to; Describe the basis of the various diagnostic tests for PCD  Have an understanding of the strengths and limitations of each test  Understand that there is no 'gold standard' test  Understand why highly specialised centres should analyse samples and interpret results. Page 2 of 36A c c e p t e d M a n u s c r i p t  SummaryDiagnosing primary ciliary dyskinesia is difficult. With no reference standard, a combination of tests is needed; most tests require expensive equipment and specialist scientists. We review the advances in diagnostic testing over the past hundred years, with emphasis on recent advances.We particularly focus on use of high-speed video analysis, transmission electron microscopy, nasal nitric oxide and genetic testing. We discuss the international efforts that are in place to advance the evidence base for diagnostic tests.

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Nasal NO, high-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete

Cited by 2 publications

References 8 publications

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

Diagnostic Methods in Primary Ciliary Dyskinesia

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