Li Haichong,Yao Ziming,Guo Ruolan,et al.Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis[J].Journal of Clinical Pediatric Surgery,2025,(04):312-319.[doi:10.3760/cma.j.cn101785-202410023-003]
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Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis

Journal of Clinical Pediatric Surgery[ISSN:1671-6353/CN:43-1380/R] volume: Number: 2025年04 Page: 312-319 Column: 儿童Ⅰ型神经纤维瘤病相关骨科疾病的诊治 Date of publication: 2025-04-28
Author(s):
Li Haichong1;  Yao Ziming1;  Guo Ruolan2;  Zhang Wenyan2;  Gao Rongxuan1;  Liu Haonan1;  Guo Dong1;  Cao Jun1;  Hao Chanjuan2;  Zhang Xuejun1
1. Department of Orthopedic, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China;
2. Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, Beijing 100045, China
Keywords:
Neurofibromatosis Type1; Spinal Deformities; Genetic Testing; Genetic Research; Surgical Procedures; Operative; Treatment Outcome; Child
DOI:
10.3760/cma.j.cn101785-202410023-003
Abstract:
Objective To explore the genotypic characteristics of children with neurofibromatosis type 1 (NF1) associated dystrophic scoliosis and summarize the outcomes of surgery.Methods Whole exome sequencing (WES),multiplexligation-dependent probe amplification (MLPA) and whole genome Sequencing (WGS) was utilized for genotypic identification.A total of 47 children were operated for spinal deformities and the outcomes of surgery summarized by examining the clinical and imaging parameters before and after surgery.Results Twenty-three boys and 24 girls were clinically diagnosed as NF1 associated scoliosis with common symptoms including café-au-lait spots and scoliosis.NF1 mutations were detected in 43(91.5%) children,including 16 nonsense mutations,9 splicing mutations,13 frame shift mutations,2 missense mutation,2 exon deletions and 1 exon duplication.Initial surgical procedures included growing-rod surgery (n=30) and posterior spinal fusion (n=17).The follow-up duration was 3.6 years and Cobb angle of main curve improved from 56.0(43.0,65.0)° pre-operatively to 17.0(8.0,25.0)° at the last follow-up with an average correction rate of (68.6±17.5)%.The complications occurred in 9 patients during follow-ups.Conclusions In children with scoliosis fulfilling the clinical diagnostic criteria for NF1,the mutation detection rate of WES,MLPA,WGS was 91.5%.There is no mutation hotspot in NF1 gene.Molecular diagnosis may offer information about genetic counseling,prenatal diagnosis and eugenics.Surgery based upon patient age and severity may effectively correct spinal deformities.

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Memo

收稿日期:2024-10-11。
基金项目:国家重点研发计划资助(2023YFC2507701);北京市自然科学基金-海淀原始创新联合基金资助项目(L222095)
通讯作者:张学军,Email:zhang-x-j04@163.com;郝婵娟,Email:hchjhchj@163.com

Last Update: 2025-04-28