中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (6): 387-390.doi: 10.12144/zgmfskin202406387

• 论著 • 上一篇    下一篇

结节性硬化症三例及基因突变分析

曹晓佳,李楠,韩建文   

  1. 内蒙古医科大学附属医院皮肤科，内蒙古呼和浩特，010050
  • 出版日期:2024-06-15 发布日期:2024-05-07

Mutational analysis of three patients with tuberous sclerosis

CAO Xiaojia, LI Nan, HAN Jianwen   

  1. Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, China
  • Online:2024-06-15 Published:2024-05-07

PDF (PC)

72

摘要： 目的：明确3例结节性硬化症（tuberous sclerosis complex，TSC）患者基因突变位点。方法：对3例患者血液样本进行全外显子基因检测，对患者3进行一代测序验证。结果：患者1存在结节性硬化1型（TSC1）基因杂合插入变异TSC1: NM_000368.5:exon10:c.989dupT:p.S331Efs*10；患者2和患者3发现存在结节性硬化2型（TSC2）基因的杂合突变，分别是：TSC2: NM_000548.5:exon22:c.2481_2486 del:p.V828_K829 del和TSC2: NM_000548.5:exon5:c.348delG:p.V118Sfs*64；患者3父母未检出该变异。结论：患者2和患者3的2个突变在OMIM中未查询到相应记录，患者3推测为新发变异或父母一方存在生殖细胞嵌合，丰富了该疾病的突变位点谱。

关键词: 结节性硬化症, 基因突变, TSC1, TSC2, 基因诊断

Abstract: Objective: To determine the gene mutations of three patients with tuberous sclerosis. Methods: The whole exome gene test was conducted on the 3 patients' blood samples and the generation sequencing verification of case 3 was conducted. Results: Case 1 had a heterozygous insertion variation on TSC1 gene (TSC1: NM_000368.5:exon10:c.989dupT:p.S331Efs*10). The other cases had heterozygous mutations of TSC2: NM_000548.5:exon22:c.2481_2486 del:p.V828_K829 del and TSC2: NM_000548.5:exon5:c.348delG:p.V118Sfs*64. Genetic testing of the parents of case 3 were normal. Conclusion: The gene mutations of TSC2 were new. We speculate that the gene variants of case 3 was spontaneous or his parent have germ cell mosaic. Our study enriched the mutation spectrum of TSC.

Key words: tuberous sclerosis complex, gene mutation, TSC1, TSC2, genetic diagnosis