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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
Authors:Sanders Stephan J  Ercan-Sencicek A Gulhan  Hus Vanessa  Luo Rui  Murtha Michael T  Moreno-De-Luca Daniel  Chu Su H  Moreau Michael P  Gupta Abha R  Thomson Susanne A  Mason Christopher E  Bilguvar Kaya  Celestino-Soper Patricia B S  Choi Murim  Crawford Emily L  Davis Lea  Wright Nicole R Davis  Dhodapkar Rahul M  DiCola Michael  DiLullo Nicholas M  Fernandez Thomas V  Fielding-Singh Vikram  Fishman Daniel O  Frahm Stephanie  Garagaloyan Rouben  Goh Gerald S  Kammela Sindhuja  Klei Lambertus  Lowe Jennifer K  Lund Sabata C  McGrew Anna D  Meyer Kyle A  Moffat William J  Murdoch John D  O'Roak Brian J  Ober Gordon T
Institution: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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