Literature DB >> 17322880

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Peter Szatmari, Andrew D Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-Qing Liu, John B Vincent, Jennifer L Skaug, Ann P Thompson, Lili Senman, Lars Feuk, Cheng Qian, Susan E Bryson, Marshall B Jones, Christian R Marshall, Stephen W Scherer, Veronica J Vieland, Christopher Bartlett, La Vonne Mangin, Rhinda Goedken, Alberto Segre, Margaret A Pericak-Vance, Michael L Cuccaro, John R Gilbert, Harry H Wright, Ruth K Abramson, Catalina Betancur, Thomas Bourgeron, Christopher Gillberg, Marion Leboyer, Joseph D Buxbaum, Kenneth L Davis, Eric Hollander, Jeremy M Silverman, Joachim Hallmayer, Linda Lotspeich, James S Sutcliffe, Jonathan L Haines, Susan E Folstein, Joseph Piven, Thomas H Wassink, Val Sheffield, Daniel H Geschwind, Maja Bucan, W Ted Brown, Rita M Cantor, John N Constantino, T Conrad Gilliam, Martha Herbert, Clara Lajonchere, David H Ledbetter, Christa Lese-Martin, Janet Miller, Stan Nelson, Carol A Samango-Sprouse, Sarah Spence, Matthew State, Rudolph E Tanzi, Hilary Coon, Geraldine Dawson, Bernie Devlin, Annette Estes, Pamela Flodman, Lambertus Klei, William M McMahon, Nancy Minshew, Jeff Munson, Elena Korvatska, Patricia M Rodier, Gerard D Schellenberg, Moyra Smith, M Anne Spence, Chris Stodgell, Ping Guo Tepper, Ellen M Wijsman, Chang-En Yu, Bernadette Rogé, Carine Mantoulan, Kerstin Wittemeyer, Annemarie Poustka, Bärbel Felder, Sabine M 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, Frederike Koop, Marjolein Langemeijer, Marjolijn Langemeijer, Channa Hijmans, Channa Hijimans, Wouter G Staal, Gillian Baird, Patrick F Bolton, Michael L Rutter, Emma Weisblatt, Jonathan Green, Catherine Aldred, Julie-Anne Wilkinson, Andrew Pickles, Ann Le Couteur, Tom Berney, Helen McConachie, Anthony J Bailey, Kostas Francis, Gemma Honeyman, Aislinn Hutchinson, Jeremy R Parr, Simon Wallace, Anthony P Monaco, Gabrielle Barnby, Kazuhiro Kobayashi, Janine A Lamb, Ines Sousa, Nuala Sykes, Edwin H Cook, Stephen J Guter, Bennett L Leventhal, Jeff Salt, Catherine Lord, Christina Corsello, Vanessa Hus, Daniel E Weeks, Fred Volkmar, Maïté Tauber, Eric Fombonne, Andy Shih, Kacie J Meyer.   

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.

Entities:  

Mesh:

Year:  2007        PMID: 17322880      PMCID: PMC4867008          DOI: 10.1038/ng1985

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  45 in total

1.  Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Authors:  Andrew J Sharp; Sierra Hansen; Rebecca R Selzer; Ze Cheng; Regina Regan; Jane A Hurst; Helen Stewart; Sue M Price; Edward Blair; Raoul C Hennekam; Carrie A Fitzpatrick; Rick Segraves; Todd A Richmond; Cheryl Guiver; Donna G Albertson; Daniel Pinkel; Peggy S Eis; Stuart Schwartz; Samantha J L Knight; Evan E Eichler
Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

2.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

3.  Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism.

Authors:  Alexander A Chubykin; Xinran Liu; Davide Comoletti; Igor Tsigelny; Palmer Taylor; Thomas C Südhof
Journal:  J Biol Chem       Date:  2005-03-29       Impact factor: 5.157

Review 4.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

6.  Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism.

Authors:  A Pickles; P Bolton; H Macdonald; A Bailey; A Le Couteur; C H Sim; M Rutter
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

7.  Pervasive developmental disorders in preschool children: confirmation of high prevalence.

Authors:  Suniti Chakrabarti; Eric Fombonne
Journal:  Am J Psychiatry       Date:  2005-06       Impact factor: 18.112

Review 8.  The genetics of autistic disorders and its clinical relevance: a review of the literature.

Authors:  C M Freitag
Journal:  Mol Psychiatry       Date:  2006-10-10       Impact factor: 15.992

9.  The broad autism phenotype: a complementary strategy for molecular genetic studies of autism.

Authors:  J Piven
Journal:  Am J Med Genet       Date:  2001-01-08

Review 10.  Autism as a paradigmatic complex genetic disorder.

Authors:  Jeremy Veenstra-Vanderweele; Susan L Christian; Edwin H Cook
Journal:  Annu Rev Genomics Hum Genet       Date:  2004       Impact factor: 8.929

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  614 in total

1.  Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.

Authors:  Thomas V Fernandez; Stephan J Sanders; Ilana R Yurkiewicz; A Gulhan Ercan-Sencicek; Young-Shin Kim; Daniel O Fishman; Melanie J Raubeson; Youeun Song; Katsuhito Yasuno; Winson S C Ho; Kaya Bilguvar; Joseph Glessner; Su Hee Chu; James F Leckman; Robert A King; Donald L Gilbert; Gary A Heiman; Jay A Tischfield; Pieter J Hoekstra; Bernie Devlin; Hakon Hakonarson; Shrikant M Mane; Murat Günel; Matthew W State
Journal:  Biol Psychiatry       Date:  2011-12-14       Impact factor: 13.382

Review 2.  The genetics of Tourette disorder.

Authors:  Matthew W State
Journal:  Curr Opin Genet Dev       Date:  2011-01-27       Impact factor: 5.578

3.  Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population.

Authors:  Qian Zhao; Tao Li; XinZhi Zhao; Ke Huang; Ti Wang; ZhiQiang Li; Jue Ji; Zhen Zeng; Zhao Zhang; Kan Li; GuoYin Feng; David St Clair; Lin He; YongYong Shi
Journal:  Schizophr Bull       Date:  2012-02-08       Impact factor: 9.306

4.  Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Authors:  Jill A Rosenfeld; Ryan N Traylor; G Bradley Schaefer; Elizabeth W McPherson; Blake C Ballif; Eva Klopocki; Stefan Mundlos; Lisa G Shaffer; Arthur S Aylsworth
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

5.  Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2.

Authors:  Emily L Dennis; Neda Jahanshad; Jeffrey D Rudie; Jesse A Brown; Kori Johnson; Katie L McMahon; Greig I de Zubicaray; Grant Montgomery; Nicholas G Martin; Margaret J Wright; Susan Y Bookheimer; Mirella Dapretto; Arthur W Toga; Paul M Thompson
Journal:  Brain Connect       Date:  2011

Review 6.  CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Authors:  Dheeraj Malhotra; Jonathan Sebat
Journal:  Cell       Date:  2012-03-16       Impact factor: 41.582

7.  Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.

Authors:  C Zweier
Journal:  Mol Syndromol       Date:  2011-09-08

Review 8.  Genetic architectures of psychiatric disorders: the emerging picture and its implications.

Authors:  Patrick F Sullivan; Mark J Daly; Michael O'Donovan
Journal:  Nat Rev Genet       Date:  2012-07-10       Impact factor: 53.242

9.  Parents' perspectives on participating in genetic research in autism.

Authors:  Magan Trottier; Wendy Roberts; Irene Drmic; Stephen W Scherer; Rosanna Weksberg; Cheryl Cytrynbaum; David Chitayat; Cheryl Shuman; Fiona A Miller
Journal:  J Autism Dev Disord       Date:  2013-03

10.  Contribution of SHANK3 mutations to autism spectrum disorder.

Authors:  Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2007-10-16       Impact factor: 11.025

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