A frequent ancestral intronic founder variant in DNAI1 causes primary ciliary dyskinesia
Extract Primary ciliary dyskinesia (PCD; MIM:244400) is a rare genetic multisystemic disorder caused by dysfunction of motile cilia [1]. So far, variants in over 60 genes have been associated with PCD [2] and are estimated to affect one in 8.000 individuals [3].
Authors
- June Kehlet Marthin (ORCID: https://orcid.org/0000-0002-4420-3091)
- Heymut Omran (ORCID: https://orcid.org/0000-0003-0282-6765)
- Kim G. Nielsen (ORCID: https://orcid.org/0000-0001-5906-9449)
- Heike Olbrich (ORCID: https://orcid.org/0000-0003-4355-353X)
- Petra Pennekamp (ORCID: https://orcid.org/0000-0002-8202-3809)
- Nikhita Damaraju (ORCID: https://orcid.org/0000-0001-5054-037X)
- Barbara A. Zimmer
- Gerard W. Dougherty (ORCID: https://orcid.org/0000-0001-6905-8110)
- Niki T. Loges (ORCID: https://orcid.org/0000-0002-1534-2105)
- Johanna Raidt (ORCID: https://orcid.org/0000-0002-1571-2647)
- Monika Tedy
- Retno Tenardi-Wenge
- Bernd Dworniczak
- Dominik Otto
- Dörthe Thüß
- Danny E. Miller
- Ina Baumann
- Maren Spaeter
Institutions
- University of Copenhagen (DK)
- Seattle Children's Hospital (US)
- University of Washington (US)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- University Hospital Münster (DE)
- Brotman Baty Institute (US)
Publication Details
- Journal
- European Respiratory Journal
- Published
- 2026-10-29
- DOI
- https://doi.org/10.1183/13993003.01575-2026
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- NIH Clinical Center