Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari; Andrew Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John Vincent; Jennifer Skaug; Ann Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan Bryson; Marshall Jones; Christian Marshall; Stephen Scherer; Veronica Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret Pericak-Vance; Michael Cuccaro; John Gilbert; Harry Wright; Ruth Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph Buxbaum; Kenneth Davis; Eric Hollander; Jeremy Silverman; Joachim Hallmayer; Linda Lotspeich; James Sutcliffe; Jonathan Haines; Susan Folstein; Joseph Piven; Thomas Wassink; Val Sheffield; Daniel Geschwind; Maja Bucan; Ted Brown; Rita Cantor; John Constantino; Conrad Gilliam; Martha Herbert; Clara Lajonchere; David Ledbetter; Christa Lese-Martin; Janet Miller; Stan Nelson; Carol Samango-Sprouse; Sarah Spence; Matthew State; Rudolph Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William Mcmahon; Nancy Minshew; Jeff Munson; Elena Korvatska; Patricia Rodier; Gerard Schellenberg; Moyra Smith; Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen Wijsman; Chang-En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha De Jonge; Chantal Kemner; Frederieke Koop; Marjolein Langemeijer

doi:10.1038/ng1985

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Journal article

Open access

Peer reviewed

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari, Andrew Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-Qing Liu, John Vincent, Jennifer Skaug, Ann Thompson, Lili Senman, …

Nature genetics, Vol.39(3), pp.319-28

2007-03

DOI: https://doi.org/10.1038/ng1985

PMCID: PMC4867008

PMID: 17322880

Abstract

Genetic Predisposition to Disease

Genetic Testing

Autistic Disorder

Humans

Risk Factors

Male

Chromosome Mapping

Lod Score

Genetic Variation

Life Sciences

Chromosome Aberrations

Female

Family

Genetics

Genetic Linkage

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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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.136 Autism & Development Disorders; 1.136.283 Autism
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Details

Title: Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Creators: Peter Szatmari - Department of Psychiatry and Behavioural Neurosciences
Andrew Paterson - The Centre for Applied Genomics, Toronto
Lonnie Zwaigenbaum - Department of Pediatrics
Wendy Roberts - Autism Research Unit
Jessica Brian - Autism Research Unit
Xiao-Qing Liu - The Centre for Applied Genomics, Toronto
John Vincent - Department of Psychiatry
Jennifer Skaug - The Centre for Applied Genomics, Toronto
Ann Thompson - Department of Psychiatry and Behavioural Neurosciences
Lili Senman - Autism Research Unit
Lars Feuk - The Centre for Applied Genomics, Toronto
Cheng Qian - The Centre for Applied Genomics, Toronto
Susan Bryson - Departments of Pediatrics and Psychology
Marshall Jones - Department of Neural and Behavioral Sciences
Christian Marshall - The Centre for Applied Genomics, Toronto
Stephen Scherer - The Centre for Applied Genomics, Toronto
Veronica Vieland - Battelle Center for Mathematical Medicine
Christopher Bartlett - Department of Pathology and Laboratory Medicine
La Vonne Mangin - Battelle Center for Mathematical Medicine
Rhinda Goedken - Department of Computer Science
Alberto Segre - Department of Computer Science
Margaret Pericak-Vance - John P. Hussman Institute for Human Genomics
Michael Cuccaro - John P. Hussman Institute for Human Genomics
John Gilbert - John P. Hussman Institute for Human Genomics
Harry Wright - W.S. Hall Psychiatric Institute
Ruth Abramson - W.S. Hall Psychiatric Institute
Catalina Betancur - Physiopathologie des Maladies du Système Nerveux Central
Thomas Bourgeron - Génétique Humaine et Fonctions Cognitives
Christopher Gillberg - Gillberg Neuropsychiatry Centre [Göteborg, Sueden]
Marion Leboyer - Institut Mondor de Recherche Biomédicale
Joseph Buxbaum - Friedman Brain Institute, Mount Sinai
Kenneth Davis - Friedman Brain Institute, Mount Sinai
Eric Hollander - Friedman Brain Institute, Mount Sinai
Jeremy Silverman - Department of Psychiatry [Pittsburgh]
Joachim Hallmayer - Stanford School of Medicine [Stanford]
Linda Lotspeich - Department of Psychiatry and Behavioral Sciences [Stanford]
James Sutcliffe - Vanderbilt Brain Institute
Jonathan Haines - Vanderbilt Brain Institute
Susan Folstein - John P. Hussman Institute for Human Genomics
Joseph Piven - Carolina Institute for Developmental Disabilities
Thomas Wassink - Department of Psychiatry
Val Sheffield - Department of Pediatrics
Daniel Geschwind - Department of Neurology
Maja Bucan - Department of Genetics
Ted Brown - N.Y.S. Institute for Basic Research in Developmental Disabilities
Rita Cantor - Department of Human Genetics, UCLA
John Constantino - Department of Psychiatry
Conrad Gilliam - University of Chicago
Martha Herbert - Harvard Medical School [Boston]
Clara Lajonchere - Autism Genetic Resource Exchange
David Ledbetter - Department of Genetics
Christa Lese-Martin - Department of Genetics
Janet Miller - Cure Autism Now
Stan Nelson - Institute of Human Genetics
Carol Samango-Sprouse - Children's National Medical Center
Sarah Spence - Department of Human Genetics, UCLA
Matthew State - Institute of Human Genetics
Rudolph Tanzi - Massachusetts General Hospital
Hilary Coon - Department of Developmental Neuroscience
Geraldine Dawson - Autism Speaks and the Department of Psychiatry
Bernie Devlin - Department of Psychiatry [Pittsburgh]
Annette Estes - Department of Speech and Hearing Sciences [Washington]
Pamela Flodman - Department of Pediatrics
Lambertus Klei - Department of Psychiatry [Pittsburgh]
William Mcmahon - Department of Developmental Neuroscience
Nancy Minshew - Department of Psychiatry [Pittsburgh]
Jeff Munson - Department of Psychiatry and Behavioral Sciences
Elena Korvatska - Department of Pediatrics
Patricia Rodier - Department of OB/GYN
Gerard Schellenberg - Pathology and Laboratory Medicine
Moyra Smith - Department of Pediatrics
Anne Spence - Department of Pediatrics
Chris Stodgell - Department of OB/GYN
Ping Guo Tepper - Department of Epidemiology
Ellen Wijsman - Departments of Biostatistics and Medicine
Chang-En Yu - Department of Medicine
Bernadette Rogé - Octogone Unité de Recherche Interdisciplinaire
Carine Mantoulan - Centre de Référence du Syndrome de Prader-Willi
Kerstin Wittemeyer - Department of Psychiatry
Annemarie Poustka - Division of Molecular Genome Analysis
Bärbel Felder - Division of Molecular Genome Analysis
Sabine Klauck - Division of Molecular Genome Analysis
Claudia Schuster - Division of Molecular Genome Analysis
Fritz Poustka - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Sven Bölte - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Sabine Feineis-Matthews - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Evelyn Herbrecht - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
Gabi Schmötzer - Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy
John Tsiantis - University Department of Child Psychiatry
Katerina Papanikolaou - University Department of Child Psychiatry
Elena Maestrini - Department of Pharmacy and Biotechnology
Elena Bacchelli - Department of Pharmacy and Biotechnology
Francesca Blasi - Department of Pharmacy and Biotechnology
Simona Carone - Medical Genetics Laboratory
Claudio Toma - Department of Pharmacy and Biotechnology
Herman Van Engeland - Department of Psychiatry
Maretha De Jonge - Department of Psychiatry
Chantal Kemner - Department of Neurocognition
Frederieke Koop - Department of Psychiatry
Marjolein Langemeijer - Department of Psychiatry
Publication Details: Nature genetics, Vol.39(3), pp.319-28
Publisher: Nature Publishing Group
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 17322880
PMCID: PMC4867008
Record Identifier: 991031559283602976