• DOI:10.1038/ng1985
• Corpus ID: 205344771

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

@article{Szatmari2007MappingAR,
  title={Mapping autism risk loci using genetic linkage and chromosomal rearrangements},
  author={Peter Szatmari and Andrew D. Paterson and Lonnie Zwaigenbaum and Wendy Roberts and Jessica A. Brian and Xiao-qing Liu and John B. Vincent and Jennifer Skaug and Ann P. Thompson and Lili Senman and Lars Feuk and Cheng Qian and Susan E. Bryson and Marshall B. Jones and Christian R. Marshall and Stephen W. Scherer and Veronica J. Vieland and Christopher Bartlett and La Vonne Mangin and Rhinda J. Goedken and Alberto Maria Segre and Margaret A. Pericak-Vance and Michael L Cuccaro and John R. Gilbert and Harry H. Wright and Ruth K. Abramson and Catalina Betancur and Thomas Bourgeron and Christopher Gillberg and Marion Leboyer and Joseph. D. Buxbaum and Kenneth L. Davis and Eric Hollander and Jeremy M. Silverman and Joachim Hallmayer and Linda J. Lotspeich and James S. Sutcliffe and Jonathan L. Haines and Susan E B Folstein and Joseph Piven and Thomas H. Wassink and Val C. Sheffield and Daniel H. Geschwind and Maja Bucan and W. Ted Brown and Rita M. Cantor and John N. Constantino and T. Conrad Gilliam and Martha Reed Herbert and Clara Lajonchere and David H. Ledbetter and Christa Lese-Martin and Janet Miller and Stan Nelson and Carole A Samango-Sprouse and Sarah J. Spence and Matthew W. State and Rudolph E. Tanzi and Hilary Coon and Geraldine Dawson and Bernie Devlin and Annette M. Estes and Pamela Flodman and Lambertus Klei and William M. McMahon and Nancy J. Minshew and Jeff Munson and Elena Korvatska and Patricia M. Rodier and Gerard D. Schellenberg and Moyra J. Smith and M. Anne Spence and Christopher J. Stodgell and Ping G Tepper and Ellen M. Wijsman and Chang-En Yu and Bernadette Rog{\'e} and Carine Mantoulan and Kerstin Wittemeyer and Annemarie Poustka and B{\"a}rbel Felder and Sabine M. Klauck and Claudia Schuster and Fritz Poustka and Sven B{\"o}lte and Sabine Feineis-Matthews and Evelyn Herbrecht and Gabi Schm{\"o}tzer and John Tsiantis and Katerina Papanikolaou and Elena Maestrini and Elena Bacchelli and Francesca Blasi and Simona Carone and Claudio Toma and Herman van Engeland and Maretha V. de Jonge and Chantal Kemner and F. Bradamante I. Koop and Marjolein Langemeijer and Channa T. Hijmans and Wouter G. Staal and Gillian Baird and Patrick F. Bolton and Michael L. Rutter and Emma J. Weisblatt and Jonathan Green and Catherine Aldred and Julie Anne Wilkinson and Andrew Pickles and Ann Le Couteur and Thomas P. Berney and Helen McConachie and Anthony J. Bailey and Kostas Francis and Gemma Honeyman and A. J. Hutchinson and Jeremy R Parr and Simon Wallace and Anthony P. Monaco and Gabrielle Barnby and Kazuhiro Kobayashi and Janine A. Lamb and In{\^e}s Sousa and Nuala H Sykes and Edwin H. Cook and Stephen J. Guter and Bennett L. Leventhal and Jeff Salt and Catherine Lord and Christina Corsello and Vanessa Hus and Daniel E. Weeks and Fred R. Volkmar and Mait{\'e} Tauber and Eric Fombonne and Andy Shih and Kacie J. Meyer},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={319-328}
}

• P. Szatmari, A. Paterson, +135 authors K. J. Meyer
• Published 1 March 2007
• Biology
• Nature Genetics

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.