Identification and functional analysis of a novel CSNK2A1 frameshift variant in stillbirth
We report a novel <i>CSNK2A1</i> frameshift mutation that significantly reduces protein expression and impairs gene function. These findings expand our understanding of <i>CSNK2A1</i>'s genetic diversity and underscore the importance of comprehensive functional analyses to achieve accurate diagnosis. This study facilitates prenatal diagnosis of <i>CSNK2A1</i>-related disorders and informs clinical decision-making for carriers.
Authors
- Miao Han (ORCID: https://orcid.org/0009-0000-4811-9631)
- Xinxin Tang
- Yunqiu Du
- Leilei Wang (ORCID: https://orcid.org/0000-0001-7182-3344)
- Zhiwei Wang (ORCID: https://orcid.org/0000-0003-4895-050X)
- Nannan Zhang (ORCID: https://orcid.org/0000-0002-0843-2401)
- Tong Zhao (ORCID: https://orcid.org/0009-0008-0193-0812)
Institutions
- Lianyungang Maternal and Children’s Hospital (CN)
- Huaian First People’s Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-26
- DOI
- https://doi.org/10.3389/fgene.2025.1692704
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00