Chou I-Ching, Wan Lei, Liu Su-Ching, Tsai Chang-Hai, Tsai Fuu-Jen
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
Pediatr Neurol. 2007 Dec;37(6):404-6. doi: 10.1016/j.pediatrneurol.2007.06.017.
Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause of Tourette syndrome. The Slit and Trk-like 1 family was identified as neuronal transmembrane proteins that control neurite outgrowth. This study aimed to determine whether mutations in the gene can be found in Taiwanese patients with Tourette syndrome. In total, 160 patients were included. All children underwent peripheral blood sampling for genotype analyses. We sequenced the whole Slit and Trk-like 1 gene, including the promoter, the 3'-untranslated region, the 5'-untranslated region, and the whole coding region. We found that none of the 160 samples revealed any mutation in the whole gene sequence. In addition, there was only one polymorphism, c.3225 T>C, detected in 10 individuals. We conclude that in rare variants, it may be difficult to establish an association with disorder. Therefore, genetic screening in the Slit and Trk-like 1 gene for the recently identified mutations does not appear to be of utility in the diagnosis of Tourette syndrome.
抽动秽语综合征是一种以运动和发声抽动为特征的神经疾病。最近，发现了两个变异体，包括一个导致截短蛋白的单碱基缺失和一个改变缝隙和Trk样1基因中微小RNA结合位点的3'非翻译区变异体，它们是抽动秽语综合征的遗传病因。缝隙和Trk样1家族被鉴定为控制神经突生长的神经元跨膜蛋白。本研究旨在确定台湾抽动秽语综合征患者中是否能发现该基因的突变。总共纳入了160名患者。所有儿童均接受外周血采样以进行基因型分析。我们对整个缝隙和Trk样1基因进行了测序，包括启动子、3'非翻译区、5'非翻译区和整个编码区。我们发现160个样本中没有一个在整个基因序列中显示出任何突变。此外，仅在10个人中检测到一种多态性，即c.3225 T>C。我们得出结论，在罕见变异体中，可能难以确定与疾病的关联。因此，针对最近鉴定的突变对缝隙和Trk样1基因进行遗传筛查似乎对抽动秽语综合征的诊断没有用处。
