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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
* Corresponding author
1 Department of Psychiatry and Behavioural Neurosciences
2 The Centre for Applied Genomics, Toronto
3 Department of Pediatrics
4 Autism Research Unit
5 Department of Psychiatry
6 Departments of Pediatrics and Psychology
7 Department of Neural and Behavioral Sciences
8 Department of Molecular Genetics [Toronto]
9 Battelle Center for Mathematical Medicine
10 Department of Pathology and Laboratory Medicine
11 Department of Computer Science
12 John P. Hussman Institute for Human Genomics
13 W.S. Hall Psychiatric Institute
14 Physiopathologie des Maladies du Système Nerveux Central
15 Génétique Humaine et Fonctions Cognitives
16 Gillberg Neuropsychiatry Centre [Göteborg, Sueden]
17 Institute of Child Health
18 IMRB - Institut Mondor de Recherche Biomédicale
19 Friedman Brain Institute, Mount Sinai
20 Department of Neuroscience
21 PennState Meteorology Department
22 Department of Psychiatry [Pittsburgh]
23 Stanford School of Medicine [Stanford]
24 Department of Psychiatry and Behavioral Sciences [Stanford]
25 Vanderbilt Brain Institute
26 Department of Molecular Physiology & Biophysics and Psychiatry
27 Department of Psychiatry
28 Carolina Institute for Developmental Disabilities
29 Department of Psychiatry
30 Department of Pediatrics
31 Department of Neurology
32 Department of Genetics
33 N.Y.S. Institute for Basic Research in Developmental Disabilities
34 Department of Human Genetics, UCLA
35 Department of Psychiatry
36 University of Chicago
37 HMS - Harvard Medical School [Boston]
38 Autism Genetic Resource Exchange
39 Department of Genetics
40 Developmental Brain and Behaviour Unit
41 Cure Autism Now
42 Institute of Human Genetics
43 Children's National Medical Center
44 Massachusetts General Hospital
45 Department of Developmental Neuroscience
46 Autism Speaks and the Department of Psychiatry
47 Department of Speech and Hearing Sciences [Washington]
48 Department of Pediatrics
49 Department of Psychiatry and Behavioral Sciences
50 Department of OB/GYN
51 Pathology and Laboratory Medicine
52 Department of Epidemiology
53 Departments of Biostatistics and Medicine
54 Department of Medicine
55 Octogone - Octogone Unité de Recherche Interdisciplinaire
56 Centre de Référence du Syndrome de Prader-Willi
57 Department of Psychiatry
58 Division of Molecular Genome Analysis
59 Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
60 University Department of Child Psychiatry
61 Department of Pharmacy and Biotechnology
62 Medical Genetics Laboratory
63 Department of Psychiatry
64 Department of Neurocognition
65 Newcomen Centre
66 Department of Child and Adolescent Psychiatry
67 SGDP - MRC Social, Genetic and Developmental Psychiatry Centre
68 University of Cambridge Clinical School
69 Manchester Academic Health Sciences Centre
70 Department of Medicine, Manchester
71 Department of Child and Adolescent Psychiatry
72 Child and Adolescent Mental Health
73 Institutes of Neuroscience and Health and Society
74 The Wellcome Trust Centre for Human Genetics [Oxford]
75 Centre for Integrated Genomic Medical Research, Manchester
76 Department of Psychiatry
77 Institute for Juvenile Research
78 Department of Disability and Human Development
79 Department of Child and Adolescent Psychiatry
80 Autism and Communicative Disorders Centre
81 Human Genetics Department
82 SFU-DMG - SFU Discrete Mathematics Group
83 Child Study Centre
84 Centre d'Endocrinologie, Maladies Osseuses, Génétique et Gynécologie Médicale
85 Department of Child Psychiatry
86 Scientific Affairs
87 University of Iowa [Iowa City]
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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https://www.hal.inserm.fr/inserm-00937094
Contributor : Catalina Betancur <>
Submitted on : Monday, January 27, 2014 - 6:04:47 PM
Last modification on : Thursday, April 15, 2021 - 6:04:01 PM
Long-term archiving on: : Sunday, April 9, 2017 - 12:48:21 AM

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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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