Interpreting Variants of Uncertain Significance in <scp>PCD</scp>: Abnormal Splicing Caused by a Missense Variant of <scp><i>DNAAF3</i></scp>
Our study identified two compound heterozygous variants of DNAAF3, a pathogenic gene for PCD, and proved that a novel missense variant c.1364G>A affects splicing. Our findings not only expanded the spectrum of mutations in the DNAAF3 gene but also highlighted the importance of investigating variants of uncertain significance (VUS) for comprehensive genetic diagnoses.
Authors
- Kai‐Feng Xu (ORCID: https://orcid.org/0000-0002-7662-531X)
- Xinlun Tian (ORCID: https://orcid.org/0000-0003-4307-6665)
- Yaping Liu (ORCID: https://orcid.org/0000-0001-8274-7674)
- Wangji Zhou (ORCID: https://orcid.org/0000-0003-0308-8450)
- Chongsheng Cheng
- Yixuan Li (ORCID: https://orcid.org/0000-0003-1589-0395)
- Ting Zhang (ORCID: https://orcid.org/0000-0002-6100-8327)
- Haixia Zheng (ORCID: https://orcid.org/0000-0002-3470-2313)
- Jinrong Dai
- Miao He (ORCID: https://orcid.org/0000-0003-4309-3326)
- Xue Zhang (ORCID: https://orcid.org/0009-0001-9537-6363)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1002/mgg3.70036
- Citations
- 1
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- National Natural Science Foundation of China
- Peking Union Medical College Hospital
- National Key Research and Development Program of China