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De Novo Coding Variants Are Strongly Associated with Tourette Disorder

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  • Tourette International Collaborative Genetics (TIC Genetics)
  • Tourette Syndrome Association International Consortium for Genetics (TSAICG)
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Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT.

OriginalsprogEngelsk
TidsskriftNeuron
Vol/bind94
Udgave nummer3
Sider (fra-til)486-499.e9
Antal sider14
ISSN0896-6273
DOI
StatusUdgivet - 3 maj 2017

ID: 51533103