临床小儿外科杂志2025，Vol.24Issue(4)：312-319,8.DOI:10.3760/cma.j.cn101785-202410023-003
儿童Ⅰ型神经纤维瘤病脊柱畸形的遗传学特点及手术治疗效果研究
Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scol-iosis
摘要
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 se-quencing(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,in-cluding 16 nonsense mutations,9 splicing mutations,13 frame shift mutations,2 missense mutation,2 exon dele-tions 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.关键词
Ⅰ型神经纤维瘤病/脊柱畸形/基因检测/遗传学研究/外科手术/治疗结果/儿童Key words
Neurofibromatosis Type1/Spinal Deformities/Genetic Testing/Genetic Research/Surgi-cal Procedures,Operative/Treatment Outcome/Child引用本文复制引用
李海艟,张学军,姚子明,郭若兰,张文妍,高荣轩,刘昊楠,郭东,曹隽,郝婵娟..儿童Ⅰ型神经纤维瘤病脊柱畸形的遗传学特点及手术治疗效果研究[J].临床小儿外科杂志,2025,24(4):312-319,8.基金项目
国家重点研发计划资助(2023YFC2507701) （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) National Key R&D Program of China(2023YFC2507701) （L222095）
Beijing Municipal Natural Science Foundation(L222095) （L222095）
