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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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Peter Szatmari, Andrew D Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-Qing Liu, John B Vincent, Jennifer L Skaug, Ann P Thompson, Lili Senman, Lars Feuk, Cheng Qian, Susan E Bryson, Marshall B Jones, Christian R Marshall, Stephen W Scherer, Veronica J Vieland, Christopher Bartlett, La Vonne Mangin, Rhinda Goedken & 31 more Alberto 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 Sheffield, Daniel H Geschwind, Maja Bucan, W Ted Brown, Rita M Cantor, John N Constantino, Gillian Baird, Patrick F Bolton, Michael L Rutter, Autism Genome Project Consortium

Original languageEnglish
Pages (from-to)319 - 328
Number of pages10
JournalNature Genetics
Issue number3
PublishedMar 2007


King's Authors


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 [corrected] 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.

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