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J Neurodev Disord. 2014;6(1):34. doi: 10.1186/1866-1955-6-34. Epub 2014 Aug 23.

Copy number variation in Han Chinese individuals with autism spectrum disorder.

Author information

The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, 686 Bay Street, Peter Gilgan Centre for Research and Learning, Room 139800, Toronto, Ontario M5G 0A4, Canada.
Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto Ontario M5S 1A1, Canada.
Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang 150086, People's Republic of China.
Heilongjiang Provincial Centre for Disease Control and Prevention, Harbin, Heilongjiang 150030, People's Republic of China.
Center of Neurodevelopmental Disorders, Department of Women's and Children's Health, Karolinska Institutet, Stockholm 113 30, Sweden.
Contributed equally



Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background.


DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity.


Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism.


Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations.


Autism spectrum disorder (ASD); Copy number variations (CNVs); Han Chinese; Microarray diagnostic testing

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