A Whole-Exome Sequencing Study of Tourette Disorder in a Chinese Population.
- Authors
- Zhao, Xin; Wang, Sheng; Hao, Juanjuan; Zhu, Pengcheng; Zhang, Xin; Wu, Min
- Year
- 2020
- Journal
- DNA and cell biology
- PMID
- 31855460
- DOI
- 10.1089/dna.2019.4746
To investigate the contribution of variants to Tourette disorder (TD) probands in China. Whole-exome sequencing (WES) conducted on 15 child-parent trios (45 samples) detected 25 coding variants, including 2 Likely Gene Disrupting (LGD) variants and 6 Missense3 variants. The LGD variants were consistently associated with TD risk (Fisher's exact test OR 2.69; = 0.1952), although statistical significance was not achieved due to the small sample size. We then assessed the relationship between the genetic events and phenotypic data by comparing Yale Global Tic Severity Scale (YGTSS) scores. The TD probands with damaging variants (defined as LGD variants and Mis3 variants) had significantly higher YGTSS scores, suggesting more severe tic symptoms ( = 0.019). We also observed a hit for a damaging compound heterozygous (CH) mutation in , a high-confidence TD risk gene, in one of the TD probands. To our knowledge, this is the first study to investigate variants in TD in a Chinese population. Our results showed that LGD variants contributed to TD risk in our cohort and that TD probands with damaging variants have more severe symptoms. Furthermore, our observation of damaging CH mutations in in an individual affected with TD further strengthened the confidence in a role for this gene in TD etiology.
No figures extracted from this document.
No chunks — full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. | 2025 | 40360802 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Genetic advances and translational phenotypes in rodent models for Tourette disorder. | Kowalski TF et al. | — | 2025 | → |
| Genetic architecture of tic disorders: A systematic review of 125 observational studies. | Yang CS et al. | — | 2025 | → |
| Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder. | Strom NI et al. | — | 2025 | → |
| Persistent Tic Disorders Are Associated With 17q12 Duplications | Halvorsen M et al. | — | 2025 | — |
| Tic-related behaviors in Celsr3 mutant mice are contributed by alterations of striatal D<sub>3</sub> dopamine receptors. | Cadeddu R et al. | — | 2025 | → |
| Whole-exome sequencing identifies high-confidence genes for tic disorders in a Chinese Han population. | Lu Q et al. | — | 2024 | → |
| Molecular Landscape of Tourette's Disorder. | Widomska J et al. | — | 2023 | → |
| Tourette syndrome research highlights from 2020. | Hartmann A et al. | — | 2022 | → |
| Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We? | Levy AM et al. | — | 2021 | → |
| Genetic architecture of Tourette syndrome: our current understanding. | Domènech L et al. | — | 2021 | → |
| Revisiting the structure of the Yale Global Tic Severity Scale (YGTSS) in a sample of Chinese children with tic disorders. | Wen F et al. | — | 2021 | → |
| A Rare Novel <i>CLCN2</i> Variation and Risk of Gilles de la Tourette Syndrome: Whole-Exome Sequencing in a Multiplex Family and a Follow-Up Study in a Chinese Population. | Yuan A et al. | — | 2020 | → |
| Opportunities and challenges for drug discovery in modulating Adhesion G protein-coupled receptor (GPCR) functions. | Bondarev AD et al. | — | 2020 | → |