A novel ASXL3 gene variant in a Chinese Boy causing Bainbridge
To the best of our knowledge, this variant in the patient has not been reported previously in the literature. This study presents a novel case of the ASXL3 gene variant, emphasizing the significance of genetic analysis in patients with complex clinical presentations. Moreover, it underscores the imperative need for further research on the genetic underpinnings of rare diseases.
Authors
- Jiaying Zheng (ORCID: https://orcid.org/0000-0002-4248-4395)
- Yuefei Jin (ORCID: https://orcid.org/0000-0002-5084-5859)
- Yaodong Zhang (ORCID: https://orcid.org/0000-0003-0014-025X)
- Bowen Dai
- Shouhang Chen (ORCID: https://orcid.org/0000-0002-6245-4556)
- Fang Wang (ORCID: https://orcid.org/0000-0002-3291-0223)
- Zhi Li (ORCID: https://orcid.org/0000-0003-4144-0099)
- Chenyu Wang (ORCID: https://orcid.org/0000-0001-9803-6711)
- Xiaolong Zhang (ORCID: https://orcid.org/0000-0002-6109-9783)
- Zhuangzhuang Wang (ORCID: https://orcid.org/0000-0002-3520-0825)
- Yan P. Yuan (ORCID: https://orcid.org/0000-0003-4284-3973)
- Qingmei Wang (ORCID: https://orcid.org/0000-0003-1099-0944)
- Shujuan Han
- Yuanfang Shen
- Qiujing Liang
- Ruilin Zhang (ORCID: https://orcid.org/0009-0005-0856-4120)
Institutions
- Zhengzhou University (CN)
- Zhengzhou Children's Hospital (CN)
- Chongqing Population and Family Planning Science and Technology Research Institute (CN)
- Jilin Maternity and Child Health Care Hospital (CN)
Publication Details
- Journal
- BMC Infectious Diseases
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1186/s12879-025-11611-0
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- National Health Commission of the People's Republic of China