Pathogenic variants in<i>CFAP46</i>,<i>CFAP54</i>,<i>CFAP74</i>and<i>CFAP221</i>cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus
Overall, this study extends the spectrum of primary ciliary dyskinesia genes and highlights that individuals with C1d-defective primary ciliary dyskinesia elude diagnosis when using the current diagnostic algorithm. To enable diagnosis, genetic testing should be prioritised in future diagnostic guidelines.
Authors
- Heymut Omran (ORCID: https://orcid.org/0000-0003-0282-6765)
- Kai Wohlgemuth (ORCID: https://orcid.org/0000-0003-4092-0664)
- Sebastian George (ORCID: https://orcid.org/0000-0002-3768-734X)
- Heike Olbrich (ORCID: https://orcid.org/0000-0003-4355-353X)
- Luisa Biebach (ORCID: https://orcid.org/0000-0003-2863-4841)
- Petra Pennekamp (ORCID: https://orcid.org/0000-0002-8202-3809)
- Julia Koenig (ORCID: https://orcid.org/0009-0002-4974-5540)
- Gerard W. Dougherty (ORCID: https://orcid.org/0000-0001-6905-8110)
- Sandra Cindrić (ORCID: https://orcid.org/0000-0002-8303-100X)
- Niki T. Loges (ORCID: https://orcid.org/0000-0002-1534-2105)
- Johanna Raidt (ORCID: https://orcid.org/0000-0002-1571-2647)
- Bernd Dworniczak (ORCID: https://orcid.org/0000-0003-4981-7903)
- Simon Lay
- Niklas Hoersting (ORCID: https://orcid.org/0009-0004-7365-7414)
- Andre Schramm
Institutions
- University Hospital Münster (DE)
- Landwirtschaftlichen Zentrums Baden-Württemberg (DE)
Publication Details
- Journal
- European Respiratory Journal
- Published
- 2024-10-03
- DOI
- https://doi.org/10.1183/13993003.00790-2024
- Citations
- 13
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Deutsche Forschungsgemeinschaft