Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

Abstract

We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6-12.0, p = 2.4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1.

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Solving the autism puzzle a few pieces at a time. [Neuron. 2011]
Solving the autism puzzle a few pieces at a time.Schaaf CP, Zoghbi HY. Neuron. 2011 Jun 9; 70(5):806-8.
Autism: The importance of getting the dose right. [Nat Rev Neurosci. 2011]
Autism: The importance of getting the dose right.Welberg L. Nat Rev Neurosci. 2011 Jul 20; 12(8):429. Epub 2011 Jul 20.

PMID:: 21658581; [PubMed - indexed for MEDLINE]

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams ...
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron. 2011 Jun 9 ;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002.

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