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Journal Articles Nature Genetics Year : 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Peter Szatmari (1) , Andrew D. Paterson (2) , Lonnie Zwaigenbaum (3) , Wendy Roberts (4) , Jessica Brian (4) , Xiao-Qing Liu (2) , John B. Vincent (5) , Jennifer L. Skaug (2) , Ann P. Thompson (1) , Lili Senman (4) , Lars Feuk (2) , Cheng Qian (2) , Susan E. Bryson (6) , Marshall B. Jones (7) , Christian R. Marshall (2) , Stephen W. Scherer (2, 8) , Veronica J. Vieland (9) , Christopher Bartlett (10) , La Vonne Mangin (9) , Rhinda Goedken (11) , Alberto Segre (11) , Margaret A. Pericak-Vance (12) , Michael L. Cuccaro (12) , John R. Gilbert (12) , Harry H. Wright (13) , Ruth K. Abramson (13) , Catalina Betancur (14) , Thomas Bourgeron (15) , Christopher Gillberg (16, 17) , Marion Leboyer (18) , Joseph D. Buxbaum (19, 20) , Kenneth L. Davis (19, 21) , Eric Hollander (19) , Jeremy M. Silverman (22, 19) , Joachim Hallmayer (23) , Linda Lotspeich (24) , James S. Sutcliffe (25, 26) , Jonathan L. Haines (25) , Susan E. Folstein (12, 27) , Joseph Piven (28) , Thomas H. Wassink (29) , Val Sheffield (30) , Daniel H. Geschwind (31) , Maja Bucan (32) , Ted W. Brown (33) , Rita M. Cantor (34) , John N. Constantino (35) , Conrad T. Gilliam (36) , Martha Herbert (37) , Clara Lajonchere (38) , David H. Ledbetter (39, 40) , Christa Lese-Martin (39) , Janet Miller (41) , Stan Nelson (42) , Carol A. Samango-Sprouse (43) , Sarah Spence (34) , Matthew State (42) , Rudolph E. Tanzi (44) , Hilary Coon (45) , Geraldine Dawson (46) , Bernie Devlin (22) , Annette Estes (47) , Pamela Flodman (48) , Lambertus Klei (22) , William M. Mcmahon (45) , Nancy Minshew (22) , Jeff Munson (49) , Elena Korvatska (48) , Patricia M. Rodier (50) , Gerard D. Schellenberg (51) , Moyra Smith (48) , Anne M. Spence (48) , Chris Stodgell (50) , Ping Guo Tepper (52) , Ellen M. Wijsman (53) , Chang-En Yu (54) , Bernadette Rogé (55) , Carine Mantoulan (56) , Kerstin Wittemeyer (57) , Annemarie Poustka (58) , Bärbel Felder (58) , Sabine M. 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 G. Staal (63) , Gillian Baird (65) , Patrick F. Bolton (66) , Michael L. 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 J. Bailey (57) , Kostas Francis (57) , Gemma Honeyman (57) , Aislinn Hutchinson (57) , Jeremy R. Parr (57, 73) , Simon Wallace (57) , Anthony P. Monaco (74) , Gabrielle Barnby (74) , Kazuhiro Kobayashi (74) , Janine A. Lamb (74, 75) , Ines Sousa (74) , Nuala Sykes (74) , Edwin H. Cook (76, 77) , Stephen J. Guter (76, 78) , Bennett L. Leventhal (79, 76) , Jeff Salt (22) , Catherine Lord (80) , Christina Corsello (80) , Vanessa Hus (80) , Daniel E. Weeks (81, 82) , Fred Volkmar (83) , Maïté Tauber (84) , Eric Fombonne (85) , Andy Shih (86) , Kacie J. Meyer (87)
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 SPW-PRADORT - Centre de Référence du Syndrome de Prader-Willi [CHU Toulouse]
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]
Lili Senman
  • Function : Author
Marion Leboyer
Janet Miller
  • Function : Author
Gillian Baird
  • Function : Author
Fred Volkmar
  • Function : Author
Andy Shih
  • Function : Author

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.

Domains

Genetics
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Dates and versions

inserm-00937094 , version 1 (27-01-2014)

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Peter Szatmari, Andrew D. Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, et al.. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.. Nature Genetics, 2007, 39 (3), pp.319-28. ⟨10.1038/ng1985⟩. ⟨inserm-00937094⟩
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