Another potential confounder arises from the fact that many Chinese pedi...
... middle of paper ...
...on overlapping the final exon of YWHAE is a population-specific variant in some individuals of Han Chinese ancestry. CNVs overlapping this gene have been previously associated with autism and intellectual disability (Capra, Mirabelli-Badenier et al. 2012; Prasad, Merico et al. 2012; Curry, Rosenfeld et al. 2013; Roberts, Hovanes et al. 2014). In our study, we identified small gains overlapping the final exon in one proband, his mother, and two other mothers in our study. As a result, we caution against over-interpretation of copy number gains at the 3’ end of YWHAE. This example communicates the importance of using ancestry-matched controls when identifying rare variants in a population. We expect that as CNV studies become routine in other ASD populations, we will see additional examples of population-specific non-pathogenic CNVs overlapping ASD candidate genes.
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