Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Peter Szatmari 1 Andrew Paterson 2 Lonnie Zwaigenbaum 3 Wendy Roberts 4 Jessica Brian 4 Xiao-Qing Liu 2 John Vincent 5 Jennifer Skaug 2 Ann Thompson 1 Lili Senman 4 Lars Feuk 2 Cheng Qian 2 Susan Bryson 6 Marshall Jones 7 Christian Marshall 2 Stephen Scherer 2, 8, * Veronica Vieland 9 Christopher Bartlett 10 La Vonne Mangin 9 Rhinda Goedken 11 Alberto Segre 11 Margaret Pericak-Vance 12 Michael Cuccaro 12 John Gilbert 12 Harry Wright 13 Ruth Abramson 13 Catalina Betancur 14 Thomas Bourgeron 15 Christopher Gillberg 16, 17 Marion Leboyer 18 Joseph Buxbaum 19, 20 Kenneth Davis 19, 21 Eric Hollander 19 Jeremy Silverman 22, 19 Joachim Hallmayer 23 Linda Lotspeich 24 James Sutcliffe 25, 26 Jonathan Haines 25 Susan Folstein 12, 27 Joseph Piven 28 Thomas Wassink 29 Val Sheffield 30 Daniel Geschwind 31 Maja Bucan 32 Ted Brown 33 Rita Cantor 34 John Constantino 35 Conrad Gilliam 36 Martha Herbert 37 Clara Lajonchere 38 David Ledbetter 39, 40 Christa Lese-Martin 39 Janet Miller 41 Stan Nelson 42 Carol Samango-Sprouse 43 Sarah Spence 34 Matthew State 42 Rudolph Tanzi 44 Hilary Coon 45 Geraldine Dawson 46 Bernie Devlin 22, * Annette Estes 47 Pamela Flodman 48 Lambertus Klei 22 William Mcmahon 45 Nancy Minshew 22 Jeff Munson 49 Elena Korvatska 48 Patricia Rodier 50 Gerard Schellenberg 51 Moyra Smith 48 Anne Spence 48 Chris Stodgell 50 Ping Guo Tepper 52 Ellen Wijsman 53 Chang-En Yu 54 Bernadette Rogé 55 Carine Mantoulan 56 Kerstin Wittemeyer 57 Annemarie Poustka 58 Bärbel Felder 58 Sabine Klauck 58 Claudia Schuster 58 Fritz Poustka 59 Sven Bölte 59 Sabine Feineis-Matthews 59 Evelyn Herbrecht 59 Gabi Schmötzer 59 John Tsiantis 60 Katerina Papanikolaou 60 Elena Maestrini 61 Elena Bacchelli 61 Francesca Blasi 61 Simona Carone 62 Claudio Toma 61 Herman Van Engeland 63 Maretha De Jonge 63 Chantal Kemner 64 Frederieke Koop 63 Marjolein Langemeijer 63 Channa Hijmans 63 Wouter Staal 63 Gillian Baird 65 Patrick Bolton 66 Michael Rutter 67 Emma Weisblatt 68 Jonathan Green 69 Catherine Aldred 69 Julie-Anne Wilkinson 69 Andrew Pickles 70 Ann Le Couteur 71 Tom Berney 71 Helen Mcconachie 72 Anthony Bailey 57 Kostas Francis 57 Gemma Honeyman 57 Aislinn Hutchinson 57 Jeremy Parr 57, 73 Simon Wallace 57 Anthony Monaco 74 Gabrielle Barnby 74 Kazuhiro Kobayashi 74 Janine Lamb 74, 75 Ines Sousa 74 Nuala Sykes 74 Edwin Cook 76, 77 Stephen Guter 76, 78 Bennett Leventhal 79, 76 Jeff Salt 22 Catherine Lord 80 Christina Corsello 80 Vanessa Hus 80 Daniel Weeks 81, 82 Fred Volkmar 83 Maïté Tauber 84 Eric Fombonne 85 Andy Shih 86 Kacie Meyer 87
* Auteur correspondant
Abstract : 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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Article dans une revue
Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.319-28. 〈10.1038/ng1985〉
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Peter Szatmari, Andrew Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, et al.. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.. Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.319-28. 〈10.1038/ng1985〉. 〈inserm-00937094〉

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