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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

2007; Nature Portfolio; Volume: 39; Issue: 3 Linguagem: Inglês

10.1038/ng1985

1546-1718

Peter Szatmari, Andrew D. Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiaoqing Liu, John B. Vincent, Jennifer Skaug, Ann Thompson, Lili Senman, Lars Feuk, Qian Cheng, Susan E. Bryson, Marshall B. Jones, Christian R. Marshall, Stephen W. Scherer, Veronica J. Vieland, Christopher W. Bartlett, La Vonne Mangin, Rhinda Goedken, Alberto M. Segre, Margaret A. Pericak‐Vance, Michael L. Cuccaro, John R. Gilbert, Harry H. Wright, Ruth K. Abramson, Catalina Betancur, Thomas Bourgeron, Christopher Gillberg, Marion Leboyer, Joseph D. Buxbaum, Kenneth L. Davis, Eric Hollander, Jeremy M. Silverman, Joachim Hallmayer, Linda Lotspeich, James S. Sutcliffe, Jonathan L. Haines, Susan E. Folstein, Joseph Piven, Thomas H. Wassink, Val C. Sheffield, Daniel H. Geschwind, Maja Bućan, W. Ted Brown, Rita M. Cantor, John N. Constantino, T. Conrad Gilliam, Martha R. Herbert, Clara Lajonchere, David H. Ledbetter, Christa Lese‐Martin, Janet Miller, Stan F. Nelson, Carol A Samango-Sprouse, Sarah Spence, Matthew W. State, Rudolph E. Tanzi, Hilary Coon, Géraldine Dawson, Bernie Devlin, Annette Estes, Pamela Flodman, Lambertus Klei, William M. McMahon, Nancy J. Minshew, Jeff Munson, Elena Korvatska, Patricia M. Rodier, Gerard D. Schellenberg, Moyra Smith, M. Anne Spence, Chris Stodgell, Ping G. Tepper, Ellen M. Wijsman, Chang-En Yu, Bernadette Rogé, Carine Mantoulan, Kerstin Wittemeyer, Annemarie Poustka, Bärbel Felder, Sabine M. Klauck, Claudia Schuster, Fritz Poustka, Sven Bölte, Sabine Feineis-Matthews, Evelyn Herbrecht, Gabi Schmötzer, John Tsiantis, Κaterina Papanikolaou, Elena Maestrini, Elena Bacchelli, Francesca Blasi, Simona Carone, Claudio Toma, Hermán van Engeland, Maretha Jonge, Chantal Kemner, Frederieke Koop, Frederike Koop, Marjolein Langemeijer, Marjolijn Langemeijer, Channa Hijmans, Channa Hijimans, Wouter Staal, Gillian Baird, Patrick Bolton, Michael Rutter, Emma Weisblatt, Jonathan Green, Catherine Aldred, Julie-Anne Wilkinson, Andrew Pickles, Ann Le Couteur, T. P. Berney, Helen McConachie, Anthony Bailey, K Francis, Gemma Honeyman, Aislinn Hutchinson, Jeremy Parr, Simon Wallace, Anthony P. Monaco, Gabrielle Barnby, Kazuhiro Kobayashi, Janine A. Lamb, Inês Sousa, Nuala Sykes, Edwin H. Cook, Stephen J. Guter, Bennett Leventhal, Jeff Salt, Catherine Lord, Christina Corsello, Vanessa Hus, Daniel E. Weeks, Fred R. Volkmar, M. Tauber, Éric Fombonne, Andy Shih, Kacie J. Meyer,

Genetics and Neurodevelopmental Disorders

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.