Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia

Wallmeier, Julia; Boon, Mieke; Mutairi, D Al; Loges, NT; Ma, Lina; Chen, Chun-Tao; Olbrich, Heike; Pennekamp, Petra; Menchen, Tabea; Dougherty, Gerard W.; Werner, Claudius; Jaspers, Martine; Griese, Matthias; Horak, Elisabeth; Körner-Rettberg, C; Schmitt‐Grohé, Sabina; Zimmermann, Theodor; Hevroni, Avigdor; Abitbul, Revital; Avital, Avraham; Soferman, Ruth; Amirav, Israel; Mitchison, Hannah M.; Jorissen, Mark; Alkuraya, Fowzan S.; Kintner, Chris; Omran, Heymut

doi:10.1186/2194-7791-2-s1-a15

Cited by 3 publications

(3 citation statements)

References 2 publications

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“…Investigations were unusual, revealing a nNO of 50 ppb, sparse and short cilia on several brushings and it was unclear if these were primary or secondary abnormalities. Genetic testing was negative for genes associated with reduced generation of motile cilia (including CCNO and MCIDAS [95]) but showed two variants in DNAH9. Defects in this gene were reported to cause absent ODA in the distal part of the cilium [96].…”

Section: Case Presentations Difficult Diagnostic Casesmentioning

confidence: 99%

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

et al. 2020

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Primary ciliary dyskinesia (PCD) is an inherited ciliopathy leading to chronic suppurative lung disease, chronic rhinosinusitis, middle ear disease, sub-fertility and situs abnormalities. As PCD is rare, it is important that scientists and clinicians foster international collaborations to share expertise in order to provide the best possible diagnostic and management strategies. 'Better Experimental Approaches to Treat Primary Ciliary Dyskinesia' (BEAT-PCD) is a multidisciplinary network funded by EU COST Action (BM1407) to coordinate innovative basic science and clinical research from across the world to drive advances in the field. The fourth and final BEAT-PCD Conference and fifth PCD Training School were held jointly in March 2019 in Poznan, Poland. The varied program of plenaries, workshops, break-out sessions, oral and poster presentations were aimed to enhance the knowledge and skills of delegates, whilst also providing a collaborative platform to exchange ideas. In this final BEAT-PCD conference we were able to build upon programmes developed throughout the lifetime of the COST Action. These proceedings report on the conference, highlighting some of the successes of the BEAT-PCD programme.

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Section: Case Presentations Difficult Diagnostic Casesmentioning

confidence: 99%

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

et al. 2020

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“…Some authors categorize hyperfrequent (or hyperkinetic) or slow ciliary beating as a distinct abnormal CBP in reported classification systems. Ciliary aplasia, or reduced generation of multiple cilia, is a mucociliary clearance disorder caused by a failure in ciliogenesis, resulting in vastly reduced numbers of motile respiratory cilia, and has been associated with a mutation in two genes, CCNO and MCIDAS . Viewed under DHSV, due to the lack of cilia, samples might be wrongly interpreted as poor quality.…”

Section: Cbp Assessmentmentioning

confidence: 99%

Ciliary functional analysis: Beating a path towards standardization

Kempeneers¹,

Seaton

Espinosa

et al. 2019

Pediatric Pulmonology

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Primary ciliary dyskinesia is an inherited disorder in which respiratory cilia are stationary, or beat in a slow or dyskinetic manner, leading to impaired mucociliary clearance and significant sinopulmonary disease. One diagnostic test is ciliary functional analysis using digital high‐speed video microscopy (DHSV), which allows real‐time analysis of complete ciliary function, comprising ciliary beat frequency (CBF) and ciliary beat pattern (CBP). However, DHSV lacks standardization. In this paper, the current knowledge of DHSV ciliary functional analysis is presented, and recommendations given for a standardized protocol for ciliary sample collection and processing. A proposal is presented for a quantitative and qualitative CBP evaluation system, to be used to develop international consensus agreement, and future DHSV research areas are identified.

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“…Reduced generation of multiple motile cilia (RGMC), previously referred to as “ciliary aplasia,” is a mucociliary clearance disorder caused by failure in ciliogenesis, resulting in vastly reduced numbers of motile respiratory cilia . Currently, mutations in two genes, CCNO , and MCIDAS , have been identified .…”

Section: Motor Ciliopathiesmentioning

confidence: 99%

To beat, or not to beat, that is question! The spectrum of ciliopathies

Kempeneers

Chilvers

2018

Pediatric Pulmonology

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Cilia are widely distributed throughout the human body, and have numerous roles in physiology, development, and disease. Ciliary ultrastructure is complex, consisting of nine parallel microtubules doublets, with or without motor dynein arms and a central pair of microtubules. Classification of cilia has evolved over time, and currently, four main classes are described: motile and non-motile cilia with a "9 + 2" structure, and motile and non-motile cilia with a "9 + 0" structure, which depend on the presence or absence of dynein arms and a central pair. Ciliopathies are inherited multisystem disorders of cilia, and may present with a varied spectrum of genotypes and phenotypes. Motor and sensory ciliopathies were historically considered as distinct dysfunctions of motile and non-motile cilia, but recent data indicate that the classical features of motor and sensory cilia may overlap.

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Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia

Cited by 3 publications

References 2 publications

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

Ciliary functional analysis: Beating a path towards standardization

To beat, or not to beat, that is question! The spectrum of ciliopathies

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