title: Copy number variation in Han Chinese individuals with autism spectrum disorder.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Gazzellone
authors.affiliation: 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 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.
authors.forename: Xue
authors.initials: X
authors.lastname: Zhou
authors.affiliation: 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.
authors.forename: Anath C
authors.initials: AC
authors.lastname: Lionel
authors.affiliation: 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.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Uddin
authors.affiliation: 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.
authors.forename: Bhooma
authors.initials: B
authors.lastname: Thiruvahindrapuram
authors.affiliation: Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang 150086, People's Republic of China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Liang
authors.affiliation: Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang 150086, People's Republic of China.
authors.forename: Caihong
authors.initials: C
authors.lastname: Sun
authors.affiliation: Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang 150086, People's Republic of China.
authors.forename: Jia
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang 150086, People's Republic of China.
authors.forename: Mingyang
authors.initials: M
authors.lastname: Zou
authors.affiliation: 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.|Center of Neurodevelopmental Disorders, Department of Women's and Children's Health, Karolinska Institutet, Stockholm 113 30, Sweden.
authors.forename: Kristiina
authors.initials: K
authors.lastname: Tammimies
authors.affiliation: 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.
authors.forename: Susan
authors.initials: S
authors.lastname: Walker
authors.affiliation: 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.
authors.forename: Thanuja
authors.initials: T
authors.lastname: Selvanayagam
authors.affiliation: 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.
authors.forename: John
authors.initials: J
authors.lastname: Wei
authors.affiliation: 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.
authors.forename: Zhuozhi
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin, Heilongjiang 150086, People's Republic of China.
authors.forename: Lijie
authors.initials: L
authors.lastname: Wu
authors.affiliation: 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.
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
keywords: Autism spectrum disorder (ASD); Copy number variations (CNVs); Han Chinese; Microarray diagnostic testing