ArticleOrphanet journal of rare diseases2025
Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population.Molecular genetics & genomic medicine · 2026Article
- Inflammatory Phenotypes of Bronchiectasis.Journal of personalized medicine · 2025Review
- Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in theFrontiers in pediatrics · 2025Article
- Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.Therapeutic advances in respiratory diseaseArticle
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18 authors.
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Abstract
backgroundHereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services coupled with a lack of awareness of the syndrome. We hypothesize that whole exome sequencing (WES) in patients with supporting clinical features, combined with non-genetic testing methods, will enhance the diagnosis of hereditary bronchiectasis.
resultsIn total, 87 patients with clinical features suggestive of hereditary bronchiectasis, such as diffuse bronchiectasis (≥ 2 lobes) combined with early onset symptoms, recurrent otitis media, rhinosinusitis, infertility, organ laterality defects or a family history of bronchiectasis, were included in this study. Among them, 49.4% (43/87) were diagnosed with hereditary bronchiectasis, including 15 patients with cystic fibrosis, 27 patients with primary ciliary dyskinesia, and 1 patient with immunodeficiency-21. The combined use of WES and non-genetic testing methods significantly improved the diagnostic rate of hereditary bronchiectasis compared to non-genetic testing alone (47.1% vs. 25.3%, P = 0.005). Re-analysis of negative commercial genetic tests led to two additional diagnoses, though this increase was not statistically significant (47.1% vs. 49.4%, P = 0.879).
conclusionsWe have described the supporting clinical features of patients with hereditary bronchiectasis. Clinicians should recommend WES for patients exhibiting these characteristics, in combination with accessible non-genetic testing methods, to maximize diagnostic accuracy. For patients with negative initial genetic test results, re-analysis of WES data may facilitate obtaining a new diagnosis.
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