Evidence map›Paper›PMID 39291810›Full record

ArticlePediatric pulmonology2024

HYDIN variants cause primary ciliary dyskinesia in the Finnish population.

Thomas Burgoyne, Mahmoud R Fassad, Rüdiger Schultz, Varpu Elenius, Jacqueline S Y Lim, Grace Freke, Ranjit Rai, Mai A Mohammed, Hannah M Mitchison, Anu I Sironen

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In one paragraph

Article in Pediatric pulmonology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Thomas BurgoyneInstitute of Ophthalmology, University College London, London, UK.
Mahmoud R FassadGreat Ormond Street Institute of Child Health, University College London, London, UK.
Rüdiger SchultzAllergy Centre, Tampere University Hospital, Tampere, Finland.
Varpu EleniusDepartment of Pediatrics, Turku University Hospital, University of Turku, Turku, Finland.
Jacqueline S Y LimGreat Ormond Street Institute of Child Health, University College London, London, UK.
Grace FrekeGreat Ormond Street Institute of Child Health, University College London, London, UK.
Ranjit RaiPCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.
Mai A MohammedGreat Ormond Street Institute of Child Health, University College London, London, UK.
Hannah M MitchisonGreat Ormond Street Institute of Child Health, University College London, London, UK.
Anu I SironenGreat Ormond Street Institute of Child Health, University College London, London, UK.ORCID 0000-0003-2064-6960

Funding

BEAT-PCD networkBiotechnology and Biological Sciences Research CouncilH2020 Marie Sklodowska-Curie ActionsMinistry of Higher Education in EgyptNIHR Great Ormond Street Hospital Biomedical Research CentreWellcome TrustWellcome Trust Collaborative Award in Science
6 · The paper itself

Abstract

introductionPrimary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell. Thus far, disease causing variants in over 50 genes have been identified and these variants explain around 70% of all known cases. Population specific genetics underlying PCD has been reported highlighting the importance of characterizing gene variants in different populations for development of gene-based diagnostics and management.

methodsWhole exome sequencing was used to identify disease causing variants in Finnish PCD cohort. The effect of the identified HYDIN variants on cilia structure and function was confirmed by high-speed video analysis, immunofluorescence and electron tomography.

resultsIn this study, we identified three Finnish PCD patients carrying homozygous loss-of-function variants and one patient with compound heterozygous variants within HYDIN. The functional studies showed defects in the axonemal central pair complex. All patients had clinical PCD symptoms including chronic wet cough and recurrent airway infections, associated with mostly static airway cilia.

conclusionOur results are consistent with the previously identified important role of HYDIN in the axonemal central pair complex and improve specific diagnostics of PCD in different national populations.

Indexed as

Exome SequencingAdolescentChildChild, PreschoolCiliaFemaleFinlandHumansKartagener SyndromeMaleaxonemediagnosticsHYDINmotile ciliaPCDvariant

Identifiers

PMID39291810
PMCPMC11601013

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