ArticleOrphanet journal of rare diseases2021
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed.
- Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in bronchiectasis.The European respiratory journal · 2026Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.Frontiers in molecular biosciences · 2025Article
- Analysis of clinical and genetic features in a pediatric patient with Kartagener syndrome caused by compound heterozygous mutations in theFrontiers in medicine · 2025Article
- 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
- Evaluation of screening tools for primary ciliary dyskinesia in Egypt: single center study.Multidisciplinary respiratory medicine · 2024Article
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.BMC pediatrics · 2023Article
- Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.Children (Basel, Switzerland) · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Article
- Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.Journal of assisted reproduction and genetics · 2023Article
- Multiomics Analysis of aCells · 2022Article
- Whole-genome Sequencing Reveals a Novel Structural Variant ofAnnals of laboratory medicine · 2022Article
- Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a NovelFrontiers in genetics · 2022Article
- Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.Therapeutic advances in respiratory diseaseArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strategy combining assessment of typical symptoms with whole-exome sequencing (WES) and/or low-pass whole-genome sequencing (WGS) as an unbiased detection tool to identify known pathogenic mutations, novel variations, and copy number variations.
resultsA total of 26 individuals of Chinese origin with a confirmed PCD diagnosis aged 13 to 61 years (median age, 24.5 years) were included. Biallelic pathogenic mutations were identified in 19 of the 26 patients, including 8 recorded HGMD mutations and 24 novel mutations. The detection rate reached 73.1%. DNAH5 was the most frequently mutated gene, and c.8383C > T was the most common mutated variant, but it is relatively rare in PCD patients from other ethnic groups.
conclusionThis study demonstrates the practical clinical utility of combining WES and low-pass WGS as a no-bias detecting tool in adult patients with PCD, showing a clinical characteristics and genetic spectrum of Chinese PCD patients.
Indexed as
Identifiers
What Socratic 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 Socratic graph.