De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Of course, it still remains to be determined whether de novo variants (particularly de novo LGD variants) carry risk in multiplex families, as the effects observed here trend toward significance (e.g., RR 1.16; p = 0.26 for de novo LGD variants) in an under-powered analysis (103 multiplex trios) and de novo variants appear to carry risk in multiplex families for other neurodevelopmental disorders ( Leppa et al., 2016 ; Martin et al., 2017 ).

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