一例Ⅰ型神经纤维瘤病合并斑秃和白癜风患儿的基因变异分析  

Analysis of genetic variant in a case of sporadic neurofibromatosis typeⅠwith alopecia areata and vitiligo

作　　者：张玉丽 王斌 李业贤 李艳佳[1] 张国强[1] Zhang Yuli;Wang Bin;Li Yexian;Li Yanjia;Zhang Guoqiang(Department of Dermatology,the First Hospital of Hebei Medical University,Shijiazhuang,Hebei 050031,China)

机构地区：[1]河北医科大学第一医院皮肤科,石家庄050031

出　　处：《中华医学遗传学杂志》2021年第11期1120-1122,共3页Chinese Journal of Medical Genetics

基　　金：河北医科大学2018年高等教育教学改革项目(2018-88)。

摘　　要：目的对1例临床拟诊为Ⅰ型神经纤维瘤病、斑秃、白癜风的患儿进行致病变异分析,明确其可能的致病原因,为临床诊断提供依据。方法应用芯片捕获高通量测序检测患儿NF1基因的变异,并用Sanger测序法对其核心家系成员的相应目标基因区域进行测序验证。结果患儿NF1基因检测出1个新的c.1885G>A(p.Gly629Arg)错义变异,其父母均未携带该变异,在公共数据库中未检索到该变异位点。根据美国医学遗传学与基因组学学会指南,判断c.1885G>A错义变异为致病性变异(PS1+PS2+PM2+PP3+PP4)。结论NF1基因c.1885G>A变异可能为这例患儿的致病原因,新变异的检出丰富了NF1基因的变异谱。Objective To explore the genetic basis for a patient with clinically suspected neurofibromatosis typeⅠ,alopecia areata and vitiligo.Methods Variant of the NF1 gene was detected by chip capture and high-throughput sequencing.Candidate variant was verified by Sanger sequencing of the family trio.Results The patient was found to harbor a novel missense c.1885G>A(p.Gly629Arg)variant of the NF1 gene,for which neither parent was carrier.The variant was not recorded in the public database.Based on the guidelines for genetic variation of the American College of Medical Genetics and Genomics,the c.1885G>A missense variant was predicted to be pathogenic(PS1+PS2+PM2+PP3+PP4).Conclusion The c.1885G>A missense variant probably underlay the disease in this child.Above finding has enriched the spectrum of the NF1 gene variants.

关 键 词：神经纤维瘤病 斑秃 白癜风 NF1基因 

分 类 号：R758.71[医药卫生—皮肤病学与性病学] R758.41[医药卫生—临床医学] R725.9