Wang Yuting, Hu SongNian, Tan XinYu, Sang Qingqing, Shi Peng, Wang Chun, Sang Daoqian
Department of Neurology, The Third Affiliated Hospital of Anhui Medical University, Heifei, People's Republic of China.
State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, People's Republic of China.
Int J Gen Med. 2022 May 26;15:5247-5252. doi: 10.2147/IJGM.S359702. eCollection 2022.
The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).
All family members were examined through detailed clinical evaluations, auxiliary examinations and CT. Then, we selected five members from this TSC family as the test samples. They were analysed by a new exon group sequencing method. Single nucleotide polymorphisms (SNPs) were screened by using databases, such as dbSNP and HAPMAP, and then the candidate genes were selected. Genes were analysed, and finally, the most likely mutation sites were screened. The results were examined by Sanger sequencing.
In this TSC family, we identified c.913+2T>G, a splicing site mutation in the 9th intron region of TSC1. Family members without TSC did not have this mutation.
The mutations in the intron regions cannot be ruled out as a pathogenic factor for TSC.
本研究旨在筛查一个结节性硬化症（TSC）家系的可能致病基因。
对所有家庭成员进行详细的临床评估、辅助检查及CT检查。然后，从这个TSC家系中选取五名成员作为检测样本。采用一种新的外显子组测序方法对其进行分析。利用dbSNP和HAPMAP等数据库筛选单核苷酸多态性（SNP），进而选择候选基因。对基因进行分析，最终筛选出最可能的突变位点。结果通过桑格测序进行检验。
在这个TSC家系中，我们鉴定出TSC1基因第9内含子区域的一个剪接位点突变c.913 + 2T>G。无TSC的家庭成员没有这种突变。
不能排除内含子区域的突变作为TSC致病因素的可能性。
