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Region Hovedstaden - en del af Københavns Universitetshospital
E-pub ahead of print

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • Tourette International Collaborative Genetics Study (TIC Genetics)
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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 highthroughput 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.
OriginalsprogEngelsk
TidsskriftMolecular Psychiatry
ISSN1359-4184
DOI
StatusE-pub ahead of print - 9 apr. 2021

ID: 64872974