The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing
In this cohort study, NF-1 patients with dystrophic scoliosis predominantly presented with upper thoracic involvement, and surgical correction achieved a maximum postoperative Cobb angle correction rate of 85.3% without loss of correction during follow-up. The c. G1885A variant in the NF-1 gene may influence the phenotypic severity of the disease, while rs112819846, rs2916067, and rs80221306 may represent disease-relevant pathogenic variants of NF-1 patients with dystrophic scoliosis.
Authors
- Chengxin Lv (ORCID: https://orcid.org/0009-0007-4500-8961)
- Yukun Du (ORCID: https://orcid.org/0000-0003-1261-5638)
- Peng Han (ORCID: https://orcid.org/0000-0002-3405-087X)
- Jianwei Guo (ORCID: https://orcid.org/0000-0003-2007-4798)
- Jianyi Li (ORCID: https://orcid.org/0000-0002-3520-2281)
- Tao Hao
- Fangfang Gai
- Jiale Shao
- Tianyu Bai (ORCID: https://orcid.org/0000-0002-5557-1922)
- Yongming Xi (ORCID: https://orcid.org/0000-0002-2921-0699)
- Zhang Li (ORCID: https://orcid.org/0000-0001-9242-0763)
- Hui Huang (ORCID: https://orcid.org/0000-0002-6102-2815)
- Guodong Zhang (ORCID: https://orcid.org/0000-0003-2091-5075)
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
- Qingdao Academy of Agricultural Sciences (CN)
- Qingdao Center of Resource Chemistry and New Materials (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-10-15
- DOI
- https://doi.org/10.3389/fneur.2025.1641665
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Qingdao University