Ⅰ型神经纤维瘤病一家系基因变异分析  

Analysis of gene mutations in a family with neurofibromatosis typeⅠ

作　　者：邵霞[1] 虞日考[1] 赵红磊[1] 吴倩倩 吴冀 李君强[1] SHAO Xia;YU Ri-kao;ZHAO Hong-lei(Department of Dermatology,Beilun Branch of the First Affiliated Hospital,School of Medicine,Zhejiang University,Ningbo 315806,China)

机构地区：[1]浙江大学医学院附属第一医院北仑分院,宁波315806

出　　处：《实用皮肤病学杂志》2023年第3期143-145,共3页Journal of Practical Dermatology

基　　金：浙江省医药卫生科技计划项目(2018KY745)

摘　　要：目的对Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)一家系进行致病基因变异研究。方法应用目标捕获高通量测序和Sanger测序技术对1例NF1患者、2例直系亲属进行基因突变分析。结果在NF1先证者中检测到1个罕见的无义变异NF1c.5305C˃T(p.Arg1769X),其母亲也检测到同样变异,其父亲及200名对照的全外显子组测序数据库中均未检测到上述变异。结论NF1基因的杂合无义变异c.5305C˃T(p.Arg1769X)可能是该NF1家系的致病原因。Objective In the project a family with neurofibromatosis type 1 pathogenic gene mutations were researched.Methods One NF1 patient and 2 immediate relatives were analyzed for genetic variants with the application of target capture high-throughput sequencing and Sanger sequencing techniques.Results One unreported nonsense mutation NF1 c.5305C>T(p.Arg1769X)was detected in the proband.The same mutation was detected in the mother,and none of these mutations were detected in the whole exome sequencing database of his father and 200 controls in the laboratory.Conclusion The heterozygous nonsense mutation c.5305C>T(p.Arg1769X)in the NF1 gene might be the cause of the disease in this NF1 family.

关 键 词：神经纤维瘤病Ⅰ型 基因 NF1 变异 

分 类 号：R730.264[医药卫生—肿瘤]