ArticlePediatric pulmonology2026
Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.
Article in Pediatric pulmonology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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
1 citing paper in PubMed.
- Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder, and despite advances in next-generation sequencing, a substantial proportion of clinically suspected pediatric cases remain without a molecular diagnosis. This persistent diagnostic gap reflects limitations of earlier analysis pipelines and incomplete knowledge of PCD-related genes. Reanalysis of existing whole-exome sequencing (WES) data using updated resources has become a practical strategy to improve diagnostic yield in pediatric populations.
methodsWe retrospectively reanalyzed WES data from 34 Turkish pediatric patients with clinical suspicion of PCD evaluated at a tertiary center between 2019 and 2023, all of whom had previously nondiagnostic genetic results. Reanalysis incorporated updated population and disease databases, curated ciliary gene resources, phenotype-driven variant interpretation, and copy number variant (CNV) assessment.
resultsMolecular diagnoses were established in 3 of 34 patients (8.8%) through variants in known PCD genes, demonstrating the incremental value of systematic reanalysis enabled by detection of previously missed CNVs and updated literature evidence. In addition, rare variants in biologically plausible candidate genes were prioritized in 8 cases (23.5%), including genes involved in ciliary structure (RIBC1, NINL, DNAH14, SPMIP2), host defense pathways (USHBP1, CRYBG1, TRIM34), and laterality determination (WDR90).
conclusionSystematic WES reanalysis can identify missed molecular diagnoses and prioritize biologically relevant candidate genes in unresolved pediatric PCD cases, supporting future gene discovery and refinement of the genetic architecture of PCD, particularly in populations with high rates of consanguinity.
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