CONTRIBUTION OF POST-ZYGOTIC VARIANTS TO TOURETTE'S DISORDER

Abstract

Tourette’s disorder (TD) has estimated heritability of 70% to 80%, but its etiology remains poorly understood, limiting the development of novel treatments. Previous work has found TD risk from likely damaging de novo germline variants, which arise spontaneously in the parental germ cells or zygote, and these variants have been used to implicate new TD risk genes. Recent studies of ASD and intellectual disability suggest a risk contribution from postzygotic variants (PZVs) arising de novo in multicellular stages of embryogenesis, suggesting that these mosaic variants can be used to examine the genetic underpinnings of other neuropsychiatric disorders such as TD.