EDITORIAL article
Front. Mol. Biosci.
Sec. Molecular Diagnostics and Therapeutics
This article is part of the Research TopicDistinct phenotype but same genotype: Hints for the diversity of phenotypes in ciliopathiesView all 6 articles
Editorial: Distinct phenotype but same genotype: Hints for the diversity of phenotypes in ciliopathies
Provisionally accepted
- 1Newcastle University, Newcastle upon Tyne, United Kingdom
- 2Universitatsklinikum Munster, Münster, Germany
- 3Polska Akademia Nauk, Warsaw, Poland
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genes can result in abnormal ciliary clearance of the airway system explaining genetic heterogeneity as well phenotypic variability. This themed edition (https://www.frontiersin.org/research-topics/65774/distinct-phenotype-but-same-genotype-hints-for-the-diversity-of-phenotypes-in-ciliopathies/articles) highlights a timely and compelling overview of the current state of PCD diagnostics, revealing both the progress made and the significant gaps that should be addressed if patients are to receive timely, accurate, and mechanism-informed care.Two studies (Omran et "borderline" cases that require multidisciplinary expertise, the limitations are clear. Yet these studies also reveal paths forward. Integrating advanced cell/organelle imaging, molecular assays, broader genetic strategies, and international partnerships promises to refine diagnosis, shorten diagnostic journeys, and ultimately support precision-medicine approaches.As the field advances, we must move beyond a narrow conception of PCD defined by classical features, embracing instead a more nuanced understanding grounded in molecular diversity, variable phenotypes, and multidimensional diagnostic frameworks. The work presented here takes important steps in that direction and points to the critical need for next-generation predictive tools that match the complexity of the disorder they aim to detect.
Keywords: genetic diagnoses, Primary cilary dyskinesia, personalisable medicine, DNAH5, ex vivo
Received: 24 Nov 2025; Accepted: 26 Nov 2025.
Copyright: © 2025 Sayer, Omran and Zietkiewicz. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: John Andrew Sayer
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