Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.

Details

Serval ID
serval:BIB_FD8BCDB6FBDE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.
Journal
Molecular psychiatry
Author(s)
Cao X., Zhang Y., Abdulkadir M., Deng L., Fernandez T.V., Garcia-Delgar B., Hagstrøm J., Hoekstra P.J., King R.A., Koesterich J., Kuperman S., Morer A., Nasello C., Plessen K.J., Thackray J.K., Zhou L., Dietrich A., Tischfield J.A., Heiman G.A., Xing J.
Working group(s)
Tourette International Collaborative Genetics Study (TIC Genetics)
Contributor(s)
Brown L.W., Cao X., Coffey B.J., Gilbert D.L., Hedderly T., Heyman I., Huyser C., Kim E., Kim Y.S., Koh Y.J., Leventhal B.L., Madruga-Garrido M., Maras A., Mir P., Münchau A., Roessner V., Song D.H., State M.W., Willsey A.J., Zinner S.H.
ISSN
1476-5578 (Electronic)
ISSN-L
1359-4184
Publication state
In Press
Peer-reviewed
Oui
Language
english
Notes
Publication types: Journal Article
Publication Status: aheadofprint
Abstract
Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. In this study, we combined the segregation information in 13 TD multiplex families with high-throughput sequencing and genotyping to identify genes associated with TD. Using whole-exome sequencing and genotyping array data, we identified both small and large genetic variants within the individuals. We then combined multiple types of evidence to prioritize candidate genes for TD, including variant segregation pattern, variant function prediction, candidate gene expression, protein-protein interaction network, candidate genes from previous studies, etc. From the 13 families, 71 strong candidate genes were identified, including both known genes for NDDs and novel genes, such as HtrA Serine Peptidase 3 (HTRA3), Cadherin-Related Family Member 1 (CDHR1), and Zinc Finger DHHC-Type Palmitoyltransferase 17 (ZDHHC17). The candidate genes are enriched in several Gene Ontology categories, such as dynein complex and synaptic membrane. Candidate genes and pathways identified in this study provide biological insight into TD etiology and potential targets for future studies.
Pubmed
Web of science
Create date
30/04/2021 16:45
Last modification date
09/07/2021 5:37
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