一个Ⅰ型神经纤维瘤病家系的基因变异分析  

Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type Ⅰ

作　　者：邵霞[1] 虞日考[1] 丁颖果[2] 阮黎明[1,2] Shao Xia;Yu Rikao;Ding Yingguo;Ruan Liming(Beilun Branch of the First Affiliated Hospital of Zhejiang University School of Medicine,Ningbo,Zhejiang 315806,China;Department of Dermatology,the First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou,Zhejiang 310006,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 [2]浙江大学医学院附属第一医院皮肤科,杭州310006

出　　处：《中华医学遗传学杂志》2021年第12期1216-1219,共4页Chinese Journal of Medical Genetics

基　　金：浙江省医药卫生科技计划(2018KY745)。

摘　　要：目的对一个Ⅰ型神经纤维瘤病( neurofibromatosis type 1, NF1)家系进行致病基因变异分析。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名直系亲属进行基因变异分析。结果先证者检测发现NF1基因1个新的无义变异c.2511G>A(p.Trp837X), 其父亲也检测到同样的变异, 母亲及200名对照的全外显子组测序数据中均未发现上述变异。结论 NF1基因的c.2511G>A(p.Trp837X)杂合无义变异可能是该NF1家系的致病原因。objective To explore the genetic basis for a Chinese pedigree affected withneurofibromatosis type Ⅰ(NF1).Methods Target capture high-throughput sequencing and Sangersequencing were carried out to detect the pathological variant in a NF1 patient and his parents.Results Theproband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A(p.trp837x)in the NF1 gene.The same variant was not found in his mother and 200 healthy controls.Conclusion The heterozygous nonsense variant of c.2511G>A(p.trp837x)of the NF1 gene probablyunderlay the pathogenesis of NF1 in this pedigree.

关 键 词：Ⅰ型神经纤维瘤 NF1基因 基因变异 

分 类 号：R741[医药卫生—神经病学与精神病学]