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Paternally inherited cis-regulatory structural variants are associated with autism

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Date: 20th April 2018 | Source: Science

Authors: William M. Brandler, Danny Antaki, Madhusudan Gujral, Morgan L. Kleiber, Joe Whitney, Michelle S. Maile, Oanh Hong, Timothy R. Chapman, Shirley Tan, Prateek Tandon, Timothy Pang, Shih C. Tang, Keith K. Vaux, Yan Yang, Eoghan Harrington, Sissel Juul, Daniel J. Turner, Bhooma Thiruvahindrapuram, Gaganjot Kaur, Zhuozhi Wang, Stephen F. Kingsmore, Joseph G. Gleeson, Denis Bisson, Boyko Kakaradov, Amalio Telenti, J. Craig Venter, Roser Corominas, Claudio Toma, Bru Cormand, Isabel Rueda, Silvina Guijarro, Karen S. Messer, Caroline M. Nievergelt, Maria J. Arranz, Eric Courchesne, Karen Pierce, Alysson R. Muotri, Lilia M. Iakoucheva, Amaia Hervas, Stephen W. Scherer, Christina Corsello, Jonathan Sebat.

The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD. In a discovery cohort of 829 families, structural variants were depleted within promoters and untranslated regions, and paternally inherited CRE-SVs were preferentially transmitted to affected offspring and not to their unaffected siblings. The association of paternal CRE-SVs was replicated in an independent sample of 1771 families. Our results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent.

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