Paternally inherited cis-regulatory structural variants are associated with autism
Brandler, William M.; Antaki, Danny; Gujral, Madhusudan; Kleiber, Morgan L.; Whitney, Joe; Maile, Michelle S.; Hong, Oanh; Chapman, Timothy R.; Tan, Shirley; Tandon, Prateek; Pang, Timothy; Tang, Shih C.; Vaux, Keith K.; Yang, Yan; Harrington, Eoghan; Juul
SCIENCE
2018
VL / 360 - BP / 327 - EP / 330
abstract
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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Molecular Biology & Genetics
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