神经纤维瘤1型

A case of neurofibroma type 1 with gene mutation and literature review

目的:探讨神经纤维瘤1型(NF1)的临床表现及基因变异特征。方法:回顾性分析1例NF1患儿的临床资料,并复习相关文献。结果:患儿为11岁儿童,全身散在咖啡色斑11年,皮下结节2年。全外显子测序提示患儿NF1基因上发现一个杂合无义变异c.5594T>A,该变异使1865位密码子由编码亮氨酸变为终止密码子,该变异为首次报道。结论:NF1基因c.5594T>A(p.L1865*)杂合无义突变是本例患儿的致病变异,该患儿需长期随访。

Objective:To investigate the clinical manifestations and genetic mutation of neurofibromatosis type 1(NF1).Methods:The clinical data of a child with NF1 was analyzed retrospectively and the relevant literature was reviewed.Results:An 11-year-old boy presented with scattered café-au-lait spots all over the body since birth and subcutaneous nodules for 2 years.Whole-exome sequencing revealed a heterozygous nonsense variant c.5594T>A in the NF1 gene,which changed the codon at position 1865 from coding for leucine to a stop codon.This is the first report of this variant.Conclusion:The heterozygous nonsense mutation of c.5594T>A(p.L1865*)in NF1 gene is pathogenic in this case,which requires long-term follow-up.