Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Cohort studyPediatric pulmonology· Aug 2026

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Tilbe Hakçıl Öz, Tuğba Şişmanlar Eyüboğlu, Ayşe Tana Aslan … Gülsüm Kayhan

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Laboratory Genetics & GenomicsCohort studyDiagnosisQ1IF 2.1

Reanalyzing whole-exome sequencing data solved 8.8% of unresolved pediatric primary ciliary dyskinesia cases.

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Tilbe Hakçıl Öz … Gülsüm Kayhan

Pediatric pulmonology · Aug 2026

Background

Primary ciliary dyskinesia (primary ciliary dyskinesia) 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.

Methods

We retrospectively reanalyzed whole-exome sequencing data from 34 Turkish pediatric patients with clinical suspicion of primary ciliary dyskinesia evaluated at a tertiary center between 2019 and 2023, all of whom had previously nondiagnostic genetic results.

n = 34 patients

8.8%

Results

8.8%

reanalysis found a genetic cause in previously unsolved cases

n = 34 patients

More results

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).

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Conclusion

Systematic whole-exome sequencing reanalysis can identify missed molecular diagnoses and prioritize biologically relevant candidate genes in unresolved pediatric primary ciliary dyskinesia cases, supporting future gene discovery and refinement of the genetic architecture of primary ciliary dyskinesia, particularly in populations with high rates of consanguinity.

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.

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