中国麻风皮肤病杂志 ›› 2021, Vol. 37 ›› Issue (4): 204-207.doi: 10.12144/zgmfskin202104204

• 论著 • 上一篇    下一篇

三例散发I型神经纤维瘤病NF1基因突变检测

马盼盼,张钏,王兴,刘芙蓉,郝胜菊,张庆华,陈雪,周秉博,孙庆梅   

  1. 甘肃省妇幼保健院，甘肃兰州，730050
  • 出版日期:2021-04-15 发布日期:2021-04-07
  • 通讯作者: 孙庆梅，E-mail: 372027527@qq.com

Detection of NF1 gene mutation in three patients with neurofibromatosis type 1

MA Panpan, ZHANG Chuan, WANG Xing, LIU Furong, HAO Shengju, ZHANG Qinghua, CHEN Xue, ZHOU Bingbo, SUN Qingmei   

  1. Department of Medical Genetics, Gansu Maternal and Child Health Care Hospital, Lanzhou 730050, China
  • Online:2021-04-15 Published:2021-04-07
  • Contact: SUN Qingmei, E-mail: 372027527@qq.com

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摘要： 目的：对3例I型神经纤维瘤病(neurofibromatosis type1, NF1)患者及其家系进行致病基因突变检测。方法：应用目标序列捕获高通量测序技术对3例I型神经纤维瘤病患者进行测序。患者检测出可疑突变类型后，应用多重连接探针扩增技术（multiplex ligation-dependent probe amplification, MLPA）及Sanger测序技术对患者及其家系成员进行突变位点验证。并采用SIFT、PolyPhen_2、Mutation Taster和GERP++软件对致病性不明的位点进行致病性预测。结果：3例I型神经纤维瘤病患者分别检测到1个NF1基因变异：NF1基因整体杂合缺失、c.4064delC和Exon14_36del。其中c.4064delC与Exon14_36del未见文献报道，为新发突变。结论：本研究中3例I型神经纤维瘤病患者中发现3个NF1基因突变，其中2个为新发突变，扩充了NF1基因突变位点。

关键词: I型神经纤维瘤病, NF1基因, 高通量测序, 多重连接探针扩增技术

Abstract: Objective: To detect the mutation of NF1 gene in three sporadic patients with neurofibromatosis type1 (NF1). Methods: Target sequence capture high-throughput sequencing technology was performed in three patients with NF1. After the pathogenic genotypes confirmed, the mutation was verified by multiplex ligation-dependent probe amplification analysis or Sanger sequencing method. SIFT, PolyPhen_2, Mutation Taster and GERP++ software were used to predict the effect of the mutation on protein function. Results: Three different mutations: gross NF1 gene deletions, c.4064delC and exon14_36del of NF1 gene were identified in the three patients respectively. The c.4064delC and exon14_36del have not been reported previously. Conclusion: Three mutations in NF1 gene were identified in these patients. Two of those mutations were novel, which broaden the spectrum of NF1 mutations.

Key words: neurofibromatosis type1, NF1 gene, high-throughput sequencing, MLPA