Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; Division of Genetics and Metabolism, China Medical University Children's Hospital, Taichung, Taiwan; Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan; School of Chinese Medicine, China Medical University, Taichung, Taiwan; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan.
Biomed J. 2022 Apr;45(2):271-279. doi: 10.1016/j.bj.2022.01.008. Epub 2022 Jan 15.
Gilles de la Tourette syndrome (TS) is a common, childhood-onset psychiatric disorder characterized by persistent motor and vocal tics. It is a heterogeneous disorder in which the phenotypic expression may be affected by environmental factors, such as immune responses. Furthermore, several studies have shown that genetic factors play a vital role in the etiology of TS, as well as its comorbidity with other disorders, including attention deficit hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder. TS has a complex inheritance pattern and, according to various genetic studies, several genes and loci have been correlated with TS. Genome-wide linkage studies have identified Slit and Trk-like 1 (SLITRK1) and histidine decarboxylase (HDC) genes, and candidate gene association studies have extensively investigated the dopamine and serotonin system genes, but there have been no consistent results. Moreover, genome-wide association studies have implicated several genetic loci; however, larger study cohorts are needed to confirm this. Copy number variations, which are polymorphisms in the number of gene copies due to chromosomal deletions or duplications, are considered another significant source of mutations in TS. In the last decade, whole genome/exome sequencing has identified several novel genetic mutations in patients with TS. In conclusion, more studies are needed to reveal the exact mechanisms of underlying TS, which may help to provide more information on the prognosis and therapeutic plans for TS.
图雷特综合征（TS）是一种常见的儿童期起病的精神障碍，其特征为持续的运动性和发声性抽动。这是一种异质性疾病，其表型表达可能受环境因素的影响，如免疫反应。此外，多项研究表明，遗传因素在 TS 的病因学以及其与其他疾病（包括注意缺陷多动障碍、强迫症和自闭症谱系障碍）的共病中起着至关重要的作用。TS 具有复杂的遗传模式，根据各种遗传研究，已经有几个基因和基因座与 TS 相关。全基因组连锁研究已经确定了 Slit 和 Trk-like 1（SLITRK1）和组氨酸脱羧酶（HDC）基因，候选基因关联研究广泛调查了多巴胺和血清素系统基因，但没有得出一致的结果。此外，全基因组关联研究已经暗示了几个遗传位点；然而，需要更大的研究队列来证实这一点。拷贝数变异是由于染色体缺失或重复导致基因拷贝数的多态性，被认为是 TS 中另一个重要的突变来源。在过去的十年中，全基因组/外显子测序已经在 TS 患者中鉴定出了几个新的遗传突变。总之，需要更多的研究来揭示 TS 的确切机制，这可能有助于提供更多关于 TS 的预后和治疗计划的信息。
