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Copy number variation findings among 50 children and adolescents with autism spectrum disorder

Sorte, Hanne S.a; Gjevik, Elenc; Sponheim, Eilib; Eiklid, Kristin L.a; Rødningen, Olaug K.a

doi: 10.1097/YPG.0b013e32835d718b
Original Articles

Objectives Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopment disorders with a complex genetic aetiology. The aim of this study was to identify copy number variations (CNVs) with a clinical significance for ASD.

Materials and methods Array-based comparative genomic hybridization was applied to detect CNVs in a clinically well-characterized population of 50 children and adolescents with ASD.

Results Nine CNVs with predicted clinical significance were identified among eight individuals (detection rate 16%). Three of the CNVs are recurrently associated with ASDs (15q11.2q13.1) or have been identified in ASD populations [3p14.2 and t(8;12)(p23.1;p13.31)]. The remaining regions (15q11.2, 10q21.1, Xp22.2, 16p13.3 and 22q13.1) have not been reported previously as candidate genes for ASD.

Conclusion This study identified five novel CNVs among the individuals. The causal relationship between identified CNVs and the ASD phenotype is not fully established. However, the genes involved are associated with ASD and/or other neuropsychiatric disorders, or implicated in synaptic and neuronal activity, thus suggesting clinical significance. Further identification of ASD-associated CNVs is required, together with a broad clinical characterization of affected individuals to identify genotype–phenotype correlations.

aDepartment of Medical Genetics

bCentre for Child and Adolescent Mental Health, Division of Mental Health and Addiction, Oslo University Hospital

cInstitute of Clinical Medicine, University of Oslo, Oslo, Norway

Correspondence to Olaug K. Rødningen, Department of Medical Genetics, Oslo University Hospital, PO Box 4956, Nydalen, 0424 Oslo, Norway Tel: +47 22119860; fax: +47 22119899; e-mail:

Received March 2, 2012

Accepted October 2, 2012

© 2013 Lippincott Williams & Wilkins, Inc.