ArticleHuman genetics2020
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Article in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder.The application of clinical genetics · 2026Article
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.Yonsei medical journal · 2024Article
- A novel pathogenic variant ofPediatric investigation · 2023Article
- Article
- The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.The Lancet. Respiratory medicine · 2022Article
- Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.Frontiers in genetics · 2022Article
- Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.International journal of pediatrics & adolescent medicine · 2021Article
- Functional Role of AKNA: A Scoping Review.Biomolecules · 2021Article
- The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis.International journal of molecular sciences · 2021Review
- A Study on the Genetics of Primary Ciliary Dyskinesia.Journal of clinical medicine · 2021Article
- A HomozygousGenes · 2021Article
- NovelFrontiers in medicine · 2021Article
- A genomics approach to male infertility.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Unlike disorders of primary cilium, primary ciliary dyskinesia (PCD) has a much narrower clinical spectrum consistent with the limited tissue distribution of motile cilia. Nonetheless, PCD diagnosis can be challenging due to the overlapping features with other disorders and the requirement for sophisticated tests that are only available in specialized centers. We performed exome sequencing on all patients with a clinical suspicion of PCD but for whom no nasal nitric oxide test or ciliary functional assessment could be ordered. Among 81 patients (56 families), in whom PCD was suspected, 68% had pathogenic or likely pathogenic variants in established PCD-related genes that fully explain the phenotype (20 variants in 11 genes). The major clinical presentations were sinopulmonary infections (SPI) (n = 58), neonatal respiratory distress (NRD) (n = 2), laterality defect (LD) (n = 6), and combined LD/SPI (n = 15). Biallelic likely deleterious variants were also encountered in AKNA and GOLGA3, which we propose as novel candidates in a lung phenotype that overlaps clinically with PCD. We also encountered a PCD phenocopy caused by a pathogenic variant in ITCH, and a pathogenic variant in CEP164 causing Bardet-Biedl syndrome and PCD presentation as a very rare example of the dual presentation of these two disorders of the primary and motile cilia. Exome sequencing is a powerful tool that can help "democratize" the diagnosis of PCD, which is currently limited to highly specialized centers.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.