Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia
This study is the first to describe <i>CFAP54</i>:c.6965 + 5G >A and confirm its pathogenicity. This finding brings the total number of <i>CFAP54</i>-associated PCD patients to eight and the number of distinct <i>CFAP54</i> mutations to twelve, thereby enriching the phenotypic and genotypic spectrum of this gene. Furthermore, this effective strategy of "ES reanalysis + minigene verification" resolved the diagnostic dilemma in initially ES-negative PCD cases, providing a replicable molecular diagnostic framework for similar scenarios.
Authors
- Zhang Xue (ORCID: https://orcid.org/0000-0002-6524-5549)
- Qiaoling Chen
- Xinlun Tian (ORCID: https://orcid.org/0000-0003-4307-6665)
- Wangji Zhou (ORCID: https://orcid.org/0000-0003-0308-8450)
- Xiaogang Li (ORCID: https://orcid.org/0000-0001-8135-342X)
- Yixuan Li (ORCID: https://orcid.org/0000-0003-1589-0395)
- Yaping Liu (ORCID: https://orcid.org/0000-0003-2680-4536)
- Kaifeng Xu (ORCID: https://orcid.org/0000-0003-0554-4915)
- Wanqing Lu
- Yaqi Wang (ORCID: https://orcid.org/0000-0002-6831-9742)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-11-28
- DOI
- https://doi.org/10.3389/fmed.2025.1712038
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Chinese Academy of Medical Sciences
- Peking Union Medical College Hospital
- Peking Union Medical College