中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (2): 81-84.doi: 10.12144/zgmfskin202402081

• 论著 • 上一篇    下一篇

二例节段型神经纤维瘤病NF1基因突变位点确定及产前诊断

白倩倩1,林志淼2   

  1. 1北京大学第一医院皮肤科，北京市皮肤病分子诊断重点实验室，国家皮肤与免疫疾病临床医学研究中心，北京，100034；2南方医科大学皮肤病医院，广东广州，510091
  • 出版日期:2024-02-15 发布日期:2024-01-30

Mutation analysis and prenatal diagnosis in two cases with segmental neurofibromatosis type 1

BAI Qianqian1, LIN Zhimiao2   

  1. 1 Department of Dermatology, Peking University First Hospital, Beijing 100034, China; 2 Dermatology Hospital, Southern Medical University, Guangzhou 510091, China
  • Online:2024-02-15 Published:2024-01-30

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摘要： 目的：明确2例临床疑诊为节段型神经纤维瘤病患者的基因突变位点，为其产前诊断提供基础。方法：切取患者两块不同部位神经纤维瘤体组织，分离表真皮，提取真皮DNA进行二代测序，检测到可疑变异位点后行一代测序验证，明确胚胎期镶嵌突变。孕期在胎儿绒毛膜DNA中筛查该突变，明确胎儿是否遗传。结果：两例患者均表现为单侧分布为主的多发咖啡斑、雀斑以及皮肤多发瘤体，临床疑诊为1型神经纤维瘤病，节段型。基因测序后明确二者分别携带NF1基因胚胎期镶嵌突变c.1007G>A（p.Trp336*）及c.1885G>A（p.Gly629Arg）。根据其为患者提供产前诊断，确定胎儿未遗传该变异。结论：节段型神经纤维瘤病可以通过检测瘤体DNA明确胚胎期镶嵌突变，从而为患者提供精准产前诊断。

关键词: 神经纤维瘤病, NF1基因, 产前诊断, 镶嵌突变

Abstract: Objective: To identify NF1 mutations in two patients with segmental neurofibromatosis and to provide prenatal diagnosis for these two patients. Methods: Genomic DNA was extracted from two separate dermal lesional tissues of the patients. Next-generation sequencing was performed to identify mutations usingof DNA extracted from dermal tissues of patients skin lesions. Sanger sequencing was employed to verify the NF1 mutations in different tissues. Chorionic villus sampling was performed during pregnancy of the patients and Sanger sequencing was performed. Results: The patients showed unilateral distributed, multiple asymmetrical café-au-lait macules and lentigines, as well as cutaneous neurofibroma. They were diagnosed as segmental neurofibromatosis type 1. Two mosaic mutations in NF1, c.1007G>A (p.Trp336*) and c.1885G>A（p.Gly629Arg）were detectedfound in the genomic DNA of the affected tissues from patients 1 and 2, respectively. Prenatal diagnosis was successfully performed in the two patients based on the above results. Conclusion: Molecular diagnosis of segmental neurofibromatosis is possible through the genetic testing using DNA from affected tissues, and the prenatal diagnosis is feasible based on the genetic results.

Key words: neurofibromatosis, NF1 gene, prenatal diagnosis, mosaic mutations