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Journal of Neurodevelopmental Disorders

, 6:34

First Online: 23 August 2014Received: 20 June 2014Accepted: 13 August 2014


BackgroundAutism 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.

MethodsDNA 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.

ResultsOf 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.

ConclusionsOur 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.

KeywordsAutism spectrum disorder ASD Copy number variations CNVs Microarray diagnostic testing Han Chinese AbbreviationsABCAutism Behavior Checklist

ASDautism spectrum disorder

CARSChildhood Autism Rating Scale

CDBRCChildren Development and Behavior Research Center

CNVcopy number variation.

Electronic supplementary materialThe online version of this article doi:10.1186-1866-1955-6-34 contains supplementary material, which is available to authorized users.

Matthew J Gazzellone, Xue Zhou contributed equally to this work.

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Autor: Matthew J Gazzellone - Xue Zhou - Anath C Lionel - Mohammed Uddin - Bhooma Thiruvahindrapuram - Shuang Liang - Caihong Su


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