Clinical phenotypes and genotypes of 25 pediatric patients with neurofibromatosis type 1
10.3760/cma.j.cn115354-20250804-00459
- VernacularTitle:25例神经纤维瘤病Ⅰ型患儿临床表型及基因型特点分析
- Author:
Jia XU
1
;
Xin ZHANG
1
;
Zhenwei SONG
1
;
Ying HUA
1
;
Li YANG
1
;
Longqing DUAN
1
;
Dongyu SHI
1
;
Shiyan QIU
1
Author Information
1. 山东第二医科大学附属临沂市人民医院小儿神经科，临沂 276003
- Publication Type:Journal Article
- Keywords:
Neurofibromatosis type 1;
NF1 gene;
Mutation spectrum;
Phenotypic spectrum;
Café-au-lait macule;
Plexiform neurofibroma
- From:
Chinese Journal of Neuromedicine
2025;24(9):915-921
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotypes and genetic characteristics of pediatric patients with neurofibromatosis type 1 (NF1).Methods:A cross-sectional study was adopted. Clinical and imaging data of 25 pediatric patients diagnosed as having NF1 in Department of Pediatric Neurology, Linyi People's Hospital Affiliated to Shandong Second Medical University from January 2024 to July 2025 were collected. Whole exome sequencing and Sanger sequencing were used to conduct genetic testing on the pediatric patients and his/her parents. Protein 3D modeling of the domestic and foreign unreported variations was conducted using SWISS-MODEL software.Results:Among the 25 pediatric patients with NF1, 14 were male (56%) and 11 were female (44%), with age ranging from 8 months to 18 years. All pediatric patients exhibited café-au-lait macules, and 7 (28%) presented with plexiform neurofibromas. Genetic test identified 4 types of NF1 variants: nonsense variant ( n=11, 44%), frameshift variant ( n=9, 36%), missense variant ( n=3, 12%), and splice-site variant ( n=2, 8%). Importantly, 5 novel NF1 variants were discovered, including c.3455T>A, c.3709dupG, c.2665_2684del, c.7092_7095delinsTA, and c.3260del. Three pediatric patients inherited NF1 variant from their parents, while the remaining 22 harbored de novo mutation. Conclusion:NF1 exhibits a broad clinical spectrum, primarily affecting the skin and nervous system; this study identifies 5 previously unreported variants, expanding the genetic profile of NF1.
