A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis
The case highlights the critical role of synonymous variations in the <i>NF1</i> gene that significantly impact splicing and protein function. These findings expand our understanding of <i>NF1</i>'s genetic diversity and underscore the importance of comprehensive genetic and RNA analyses to achieve accurate diagnosis and in-depth insight into the molecular underpinnings of NF1.
Authors
- Zhezhuang Xu (ORCID: https://orcid.org/0000-0001-7535-1575)
- Bin Dong (ORCID: https://orcid.org/0000-0002-8650-7974)
- Shuqi Xia
- Fan Jin (ORCID: https://orcid.org/0000-0002-5185-5231)
- Jianqiong Zheng
- Jiayong Zheng (ORCID: https://orcid.org/0000-0002-5507-2971)
- Yanjun Hu (ORCID: https://orcid.org/0009-0002-1496-8154)
- Congcong Sun (ORCID: https://orcid.org/0000-0003-3568-3756)
- Chenhui Zhang (ORCID: https://orcid.org/0000-0002-0124-6315)
- Ye Dong (ORCID: https://orcid.org/0000-0003-4662-5623)
- Zheyan Chen (ORCID: https://orcid.org/0009-0009-4684-1378)
- Yimin Wang (ORCID: https://orcid.org/0000-0003-4149-6463)
- Hai Wang (ORCID: https://orcid.org/0000-0003-0351-2151)
- Xiaoqing Li (ORCID: https://orcid.org/0000-0003-0052-6099)
- Fang Xu
- Hongping Zhang (ORCID: https://orcid.org/0000-0001-8290-7041)
- Xiaoguo Zheng (ORCID: https://orcid.org/0000-0003-0495-8964)
- Tao Lin (ORCID: https://orcid.org/0000-0002-3245-4256)
- Wenhan Wang (ORCID: https://orcid.org/0000-0001-8949-1413)
- Hongyu Pan (ORCID: https://orcid.org/0000-0002-5605-5380)
- M. Lin
- Kaixin Chen
- Yanan Lai
- Xiujie Xi
Institutions
- Wenzhou University (CN)
- Wenzhou Medical University (CN)
- Wenzhou Municipal Sci-Tech Bureau (CN)
- Women's Hospital, School of Medicine, Zhejiang University (CN)
- Wenzhou City People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-09
- DOI
- https://doi.org/10.3389/fgene.2025.1572487
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00