ArticleBMC medical genomics2021
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia.European journal of human genetics : EJHG · 2026Article
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Article
- [Report of 24 cases of primary ciliary dyskinesia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Article
- Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report.Cureus · 2026Article
- BiallelicFrontiers in genetics · 2026Article
- Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Molecular diagnosis & therapy · 2025Article
- CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.Asian journal of andrology · 2025Article
- ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.Cells · 2025Article
- DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Orphanet journal of rare diseases · 2025Article
- A 28-year-old woman with chronic respiratory symptoms: navigating a diagnostic puzzle.Breathe (Sheffield, England) · 2025Article
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Orphanet journal of rare diseases · 2024Article
- Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.Scientific reports · 2024Article
- Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Science (New York, N.Y.) · 2024Article
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii.PLoS genetics · 2024Article
- Novel pathogenic variants ofFrontiers in genetics · 2024Article
- Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.Human reproduction open · 2024Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundIt is estimated that 1-13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium structure or function, resulting in impaired mucociliary clearance. Symptoms appear in infancy but diagnosis is often late or missed, often due to the lack of a "gold standard" diagnostic tool and non-specific symptoms. Mutations in > 50 genes account for around 70% of cases, with additional genes, and non-coding, synonymous, missense changes or structural variants (SVs) in known genes presumed to account for the missing heritability.
methodsUK patients with no identified genetic confirmation for the cause of their PCD or bronchiectasis were eligible for whole genome sequencing (WGS) in the Genomics England Ltd 100,000 Genomes Project. 21 PCD probands and 52 non-cystic fibrosis (CF) bronchiectasis probands were recruited in Wessex Genome Medicine Centre (GMC). We carried out analysis of single nucleotide variants (SNVs) and SVs in all families recruited in Wessex GMC.
results16/21 probands in the PCD cohort received confirmed (n = 9), probable (n = 4) or possible (n = 3) diagnosis from WGS, although 13/16 of these could have been picked up by current standard of care gene panel testing. In the other cases, SVs were identified which were missed by panel testing. We identified variants in novel PCD candidate genes (IFT140 and PLK4) in 2 probands in the PCD cohort. 3/52 probands in the non-CF bronchiectasis cohort received a confirmed (n = 2) or possible (n = 1) diagnosis of PCD. We identified variants in novel PCD candidate genes (CFAP53 and CEP164) in 2 further probands in the non-CF bronchiectasis cohort.
conclusionsGenetic testing is an important component of diagnosing PCD, especially in cases of atypical disease history. WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants. In these cases it may detect SVs and is a powerful tool for novel gene discovery.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.