December 2, 2025Frontiers in MedicineOpen Access

Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia

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Authors

YLYixuan LiThe University of Sydney

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Implication

Exome sequencing identifies a novel CFAP54 variant, improving diagnostic yield in patients with primary ciliary dyskinesia and suggesting phenotypic variability.

Key Points

Exome sequencing identified a novel CFAP54 variant confirmed to be likely pathogenic, enhancing patient understanding.
The identified variant correlates with bronchiectasis and modifies the understanding of genotypic diversity.
Investigation employed a genotype-phenotype-inheritance pattern strategy alongside minigene assays for pathogenicity validation.
Potential impacts suggest that reanalyzing exome sequencing data can lead to accurate diagnoses in previously unexplained cases.

Cite This Study

Yixuan Li (2025) studied this question.

synapsesocial.com/papers/692e3d706c9b3ab28c186ea2 https://doi.org/10.3389/fmed.2025.1712038

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Implication

Exome sequencing identifies a novel CFAP54 variant, improving diagnostic yield in patients with primary ciliary dyskinesia and suggesting phenotypic variability.

Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia

Discussion

Member takes

Implication

Key Points

Cite This Study

Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia

Discussion

Member takes

Implication

Key Points

Cite This Study

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