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Yuen, Ryan K C; Thiruvahindrapuram, Bhooma; Merico, Daniele; Walker, Susan; Tammimies, Kristiina; Hoang, Ny; Chrysler, Christina; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Liu, Yi; Gazzellone, Matthew J; D'Abate, Lia; Deneault, Eric; Howe, Jennifer L; Liu, Richard S C; Thompson, Ann; Zarrei, Mehdi; Uddin, Mohammed; Marshall, Christian R; Ring, Robert H; Zwaigenbaum, Lonnie; Ray, Peter N; Weksberg, Rosanna; Carter, Melissa T; Fernandez, Bridget A; Roberts, Wendy; Szatmari, Peter; Scherer, Stephen W
Nature medicine, 02/2015, Volume: 21, Issue: 2Journal Article
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of susceptibility loci. Previous microarray and exome-sequencing studies have examined portions of the genome in simplex families (parents and one ASD-affected child) having presumed sporadic forms of the disorder. We used whole-genome sequencing (WGS) of 85 quartet families (parents and two ASD-affected siblings), consisting of 170 individuals with ASD, to generate a comprehensive data resource encompassing all classes of genetic variation (including noncoding variants) and accompanying phenotypes, in apparently familial forms of ASD. By examining de novo and rare inherited single-nucleotide and structural variations in genes previously reported to be associated with ASD or other neurodevelopmental disorders, we found that some (69.4%) of the affected siblings carried different ASD-relevant mutations. These siblings with discordant mutations tended to demonstrate more clinical variability than those who shared a risk variant. Our study emphasizes that substantial genetic heterogeneity exists in ASD, necessitating the use of WGS to delineate all genic and non-genic susceptibility variants in research and in clinical diagnostics.
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