山西医科大学学报2025，Vol.56Issue(6)：596-600,5.DOI:10.13753/j.issn.1007-6611.2025.06.002
一个Ⅰ型神经纤维瘤家系致病基因突变分析
Analysis of the pathogenic gene mutations in a pedigree with neurofibromatosis type 1
杨琳琳 1邢柏春 2白燕 3常瑞霞 1赵翠玲 1周永安 4邓展进 5苗聪秀1
作者信息
- 1. 长治医学院附属和平医院生殖遗传科,长治 046000
- 2. 长治医学院附属和平医院麻醉科
- 3. 山西医科大学第二临床医学院
- 4. 山西医科大学第二医院输血科
- 5. 山西医科大学第二医院神经内科
- 折叠
摘要
Abstract
Objective To perform genetic testing and analyze the molecular etiology in a family of neurofibromatosis type 1(NF1).Methods Peripheral blood samples were collected from the proband and his family members.Whole-exome sequencing(WES)was performed on the proband to screen potential pathogenic variants.Suspected mutation sites were validated by Sanger sequencing in all family members and 100 normal controls to confirm the causative mutation.Results Sequencing result revealed a pathogenic muta-tion in the NF1 gene(c.888+1G>A)in the proband.The phenotypically normal parents did not carry this mutation.Bioinformatics analysis supported its pathogenicity(PVS1+PS4+PS2+PM2_Supporting).Conclusion The c.888+1G>A mutation in the NF1 gene is the cause of this patient's disease,and it is a de novo mutation,which has not been reported at this locus in China.关键词
Ⅰ型神经纤维瘤/NF1基因/全外显子测序/剪接突变/新发突变/Sanger测序Key words
neurofibromatosis type 1/NF1 gene/whole-exome sequencing/splicing mutation/de novo/Sanger sequencing分类
医药卫生引用本文复制引用
杨琳琳,邢柏春,白燕,常瑞霞,赵翠玲,周永安,邓展进,苗聪秀..一个Ⅰ型神经纤维瘤家系致病基因突变分析[J].山西医科大学学报,2025,56(6):596-600,5.
