Journal articles

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

* 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.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics

Complete list of metadata

https://www.hal.inserm.fr/inserm-00937094
Contributor : Catalina Betancur Connect in order to contact the contributor
Submitted on : Monday, January 27, 2014 - 6:04:47 PM
Last modification on : Tuesday, May 3, 2022 - 3:14:03 PM
Long-term archiving on: : Sunday, April 9, 2017 - 12:48:21 AM

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