Yu Tingting, He Yingzhong, Li Niu, Zhou Yunqing, Wang Zhiping, Fu Qihua, Wang Jiwen, Wang Jian
Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
Department of Neurology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
Clin Neurol Neurosurg. 2017 Mar;154:104-108. doi: 10.1016/j.clineuro.2017.01.015. Epub 2017 Feb 1.
The study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC).
11 unrelated Chinese patients with TSC were investigated in the present study. Characteristic skin lesions such as hypomelanotic macules and the central nervous system features such as the epilepsy, cortical tubers and subependymal nodules were the most common symptoms that were observed in the patients. All exons and exon-intron boundaries of the TSC1 and TSC2 gene of the patients were amplified by PCR.
A total of 11 different TSC2 and one TSC1 mutations were identified in the present study, of which five TSC2 and 1 TSC1 gene mutations were novel. Among the 11 patients, 10 harbored TSC2 mutations, whereas only one patient had a TSC1 gene mutation. The identification of TSC1/TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC.
Our study has expanded the spectrum of TSC1 and TSC2 gene mutations causing TSC. The identification of the TSC1/TSC2 gene mutations confirmed the diagnosis of the 11 patients with TSC.
本研究旨在鉴定致病性TSC1或TSC2基因突变，为结节性硬化症（TSC）的诊断提供确凿证据。
本研究调查了11例无血缘关系的中国TSC患者。患者中最常见的症状为特征性皮肤损害如色素减退斑，以及中枢神经系统特征如癫痫、皮质结节和室管膜下结节。通过聚合酶链反应（PCR）扩增患者TSC1和TSC2基因的所有外显子及外显子-内含子边界。
本研究共鉴定出11种不同的TSC2突变和1种TSC1突变，其中5种TSC2和1种TSC1基因突变是新发现的。11例患者中，10例携带TSC2突变，而只有1例患者有TSC1基因突变。TSC1/TSC2基因突变的鉴定证实了11例TSC患者的诊断。
我们的研究扩展了导致TSC的TSC1和TSC2基因突变谱。TSC1/TSC2基因突变的鉴定证实了11例TSC患者的诊断。
