Liu Weiliang, Li Fang, He Zhixu, Ai Rong
Department of Pediatrics, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):68-71. doi: 10.3760/cma.j.cn511374-20201013-00716.
To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC).
Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants of the TSC1 and TSC2 genes was detected by using targeted capture next-generation sequencing (NGS) and Sanger sequencing.
The patient was found to harbor a de novo mosaicism variant c.3295_3298delG (Val1100CysfsTer3) of the TSC2 gene, with the proportion of the mutant allele determined as 13.4%, which was confirmed by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3295_3298delG (Val1100CysfsTer3) variant was predicted to be pathogenic (PVS1+PS2+PM2).
The mosaicism heterozygous variant of c.3295_3298delG of the TSC2 gene, as detected by both NGS and Sanger sequencing, probably underlay the TSC2 in this patient.
分析一名中国结节性硬化症（TSC）患者的TSC1和TSC2基因变异情况。
在获得知情同意后，采集该患者及其父母的外周血样本。提取基因组DNA后，采用靶向捕获二代测序（NGS）和桑格测序法检测TSC1和TSC2基因的潜在变异。
发现该患者携带TSC2基因的一个新生嵌合变异c.3295_3298delG（Val1100CysfsTer3），突变等位基因比例为13.4%，经桑格测序证实。根据美国医学遗传学与基因组学学会（ACMG）的指南，预测c.3295_3298delG（Val1100CysfsTer3）变异具有致病性（PVS1+PS2+PM2）。
通过NGS和桑格测序检测到的TSC2基因c.3295_3298delG嵌合杂合变异可能是该患者患TSC的病因。
