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Abstract
Rare genomic copy number variations (CNVs) (frequency <1%) contribute a part to the genetic underpinnings of autism spectrum disorders (ASD). The study aimed to understand the scope of rare CNV in Taiwanese patients with ASD. We conducted a genome-wide CNV screening of 335 ASD patients (299 males, 36 females) from Taiwan using Affymetrix Genome-Wide Human SNP Array 6.0 and compared the incidence of rare CNV with that of 1093 control subjects (525 males, 568 females). We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV. Further analysis confirmed the presence of several rare CNVs at regions strongly associated with ASD as reported in the literature in our sample. Additionally, we detected several new private pathogenic CNVs in our samples and five patients carrying two pathogenic CNVs. Our data indicate that rare genomic CNVs contribute a part to the genetic landscape of our ASD patients. These CNVs are highly heterogeneous, and the clinical interpretation of the pathogenic CNVs of ASD is not straightforward in consideration of the incomplete penetrance, varied expressivity, and individual genetic background.
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1 Department of Psychiatry, Chang Gung Memorial Hospital-Linkou, Taoyuan, Taiwan; Department and Graduate Institute of Biomedical Sciences, Chang Gung University, Taoyuan, Taiwan
2 Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan
3 Department of Occupational Therapy, College of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan
4 Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
5 Department of Psychiatry, Chang Gung Memorial Hospital-Linkou, Taoyuan, Taiwan
6 Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan; Graduate Institute of Brain and Mind Sciences, National Taiwan University, Taipei, Taiwan; Graduate Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan