Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

  title={Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism},
  author={Stephan J. Sanders and Adife Gulhan Ercan-Sencicek and Vanessa H. Hus and Rui Luo and Michael T. Murtha and Daniel Moreno-De-Luca and Su Hee Chu and Michael P. Moreau and Abha R. Gupta and Susanne A M Thomson and Christopher E. Mason and Kaya Bilguvar and Patr{\'i}cia B. S. Celestino-Soper and Murim Choi and Emily L. Crawford and Lea K. Davis and Nicole R. Davis Wright and Rahul Dhodapkar and Michael J Dicola and Nicholas M. DiLullo and Thomas V. Fernandez and Vikram Fielding-Singh and Daniel O. Fishman and Stephanie Frahm and Rouben Garagaloyan and Gerald S. Goh and Sindhuja Kammela and Lambertus Klei and Jennifer K. Lowe and Sabata C. Lund and Anna D. McGrew and Kyle A. Meyer and William J. Moffat and John D. Murdoch and Brian J. O'Roak and Gordon T. Ober and Rebecca S. Pottenger and Melanie J. Raubeson and Youeun Song and Qi Yun Wang and Brian L. Yaspan and Timothy W. Yu and Ilana R. Yurkiewicz and Arthur L Beaudet and Rita M. Cantor and Martin Curland and Dorothy E. Grice and Murat G{\"u}nel and Richard P. Lifton and Shrikant M. Mane and Donna M. Martin and Chad A. Shaw and Michael J. Sheldon and Jay A. Tischfield and Christopher A. Walsh and Eric M. Morrow and David H. Ledbetter and E. J. Fombonne and C. Lord and Christa L. Martin and Andrew I. Brooks and James S. Sutcliffe and Edwin H. Cook and Daniel Geschwind and Kathryn Roeder and Bernie J Devlin and Matthew W. State},
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… CONTINUE READING
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Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration

  • Y. Shen, K. A. Dies, +7 authors J Picker
  • Pediatrics 125,
  • 2010
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