Article
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron - 9 Jun 2011
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, Pottenger Rebecca S, Raubeson Melanie J, Song Youeun, Wang Qi, Yaspan Brian L, Yu Timothy W, Yurkiewicz Ilana R, Beaudet Arthur L, Cantor Rita M, Curland Martin, Grice Dorothy E, Günel Murat, Lifton Richard P, Mane Shrikant M, Martin Donna M, Shaw Chad A, Sheldon Michael, Tischfield Jay A, Walsh Christopher A, Morrow Eric M, Ledbetter David H, Fombonne Eric, Lord Catherine, Martin Christa Lese, Brooks Andrew I, Sutcliffe James S, Cook Edwin H, Geschwind Daniel, Roeder Kathryn, Devlin Bernie, State Matthew W
Abstract excerpt
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....
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