Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay
The <i>de novo</i> SETBP1 p.Arg544Ter variant was identified as the underlying genetic cause in this case. Our findings underscore the importance of early genetic testing in children with developmental delay to enable precise diagnosis, informed genetic counseling, and evidence-based reproductive planning.
Authors
- Huiling Qu (ORCID: https://orcid.org/0000-0003-0909-6267)
- Lu Jiang (ORCID: https://orcid.org/0000-0001-6003-7575)
- Junlin Pan (ORCID: https://orcid.org/0000-0002-2683-6223)
- Yan Zhang (ORCID: https://orcid.org/0000-0002-7508-4160)
- Ning Shi (ORCID: https://orcid.org/0000-0001-8546-3802)
- Haiping Liu (ORCID: https://orcid.org/0000-0001-7822-9487)
- Jingpeng Hou (ORCID: https://orcid.org/0000-0001-5248-7103)
Institutions
- People's Liberation Army 401 Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-06
- DOI
- https://doi.org/10.3389/fgene.2025.1637931
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00