Literature DB >> 20473310

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Simone Berkel1, Christian R Marshall, Birgit Weiss, Jennifer Howe, Ralph Roeth, Ute Moog, Volker Endris, Wendy Roberts, Peter Szatmari, Dalila Pinto, Michael Bonin, Angelika Riess, Hartmut Engels, Rolf Sprengel, Stephen W Scherer, Gudrun A Rappold.   

Abstract

Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.

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Year:  2010        PMID： 20473310     DOI： 10.1038/ng.589

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


  15 in total

1.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Authors:  Stéphane Jamain; Hélène Quach; Catalina Betancur; Maria Råstam; Catherine Colineaux; I Carina Gillberg; Henrik Soderstrom; Bruno Giros; Marion Leboyer; Christopher Gillberg; Thomas Bourgeron
Journal:  Nat Genet       Date:  2003-05       Impact factor: 38.330

2.  Structural variation of chromosomes in autism spectrum disorder.

Authors:  Christian R Marshall; Abdul Noor; John B Vincent; Anath C Lionel; Lars Feuk; Jennifer Skaug; Mary Shago; Rainald Moessner; Dalila Pinto; Yan Ren; Bhooma Thiruvahindrapduram; Andreas Fiebig; Stefan Schreiber; Jan Friedman; Cees E J Ketelaars; Yvonne J Vos; Can Ficicioglu; Susan Kirkpatrick; Rob Nicolson; Leon Sloman; Anne Summers; Clare A Gibbons; Ahmad Teebi; David Chitayat; Rosanna Weksberg; Ann Thompson; Cathy Vardy; Vicki Crosbie; Sandra Luscombe; Rebecca Baatjes; Lonnie Zwaigenbaum; Wendy Roberts; Bridget Fernandez; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

3.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Authors:  Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Juergen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Rastam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme; Nadia Chabane; Marie-Christine Mouren-Simeoni; Philippe de Mas; Eric Bieth; Bernadette Rogé; Delphine Héron; Lydie Burglen; Christopher Gillberg; Marion Leboyer; Thomas Bourgeron
Journal:  Nat Genet       Date:  2006-12-17       Impact factor: 38.330

4.  Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density.

Authors:  T M Boeckers; M R Kreutz; C Winter; W Zuschratter; K H Smalla; L Sanmarti-Vila; H Wex; K Langnaese; J Bockmann; C C Garner; E D Gundelfinger
Journal:  J Neurosci       Date:  1999-08-01       Impact factor: 6.167

5.  Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Authors:  Bridget A Fernandez; Wendy Roberts; Brian Chung; Rosanna Weksberg; Stephen Meyn; Peter Szatmari; Ann M Joseph-George; Sara Mackay; Kathy Whitten; Barbara Noble; Cathy Vardy; Victoria Crosbie; Sandra Luscombe; Eva Tucker; Lesley Turner; Christian R Marshall; Stephen W Scherer
Journal:  J Med Genet       Date:  2009-09-15       Impact factor: 6.318

Review 6.  Advances in autism genetics: on the threshold of a new neurobiology.

Authors:  Brett S Abrahams; Daniel H Geschwind
Journal:  Nat Rev Genet       Date:  2008-05       Impact factor: 53.242

7.  The postsynaptic density proteins Homer and Shank form a polymeric network structure.

Authors:  Mariko Kato Hayashi; Chunyan Tang; Chiara Verpelli; Radhakrishnan Narayanan; Marissa H Stearns; Rui-Ming Xu; Huilin Li; Carlo Sala; Yasunori Hayashi
Journal:  Cell       Date:  2009-04-03       Impact factor: 41.582

8.  Decomposing the autism phenotype into familial dimensions.

Authors:  Peter Szatmari; Chantal Mérette; Claudia Emond; Lonnie Zwaigenbaum; Marshall B Jones; Michel Maziade; Marc-Andre Roy; Roberta Palmour
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2008-01-05       Impact factor: 3.568

9.  Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:  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
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330

10.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Authors:  Patrick S Tarpey; Raffaella Smith; Erin Pleasance; Annabel Whibley; Sarah Edkins; Claire Hardy; Sarah O'Meara; Calli Latimer; Ed Dicks; Andrew Menzies; Phil Stephens; Matt Blow; Chris Greenman; Yali Xue; Chris Tyler-Smith; Deborah Thompson; Kristian Gray; Jenny Andrews; Syd Barthorpe; Gemma Buck; Jennifer Cole; Rebecca Dunmore; David Jones; Mark Maddison; Tatiana Mironenko; Rachel Turner; Kelly Turrell; Jennifer Varian; Sofie West; Sara Widaa; Paul Wray; Jon Teague; Adam Butler; Andrew Jenkinson; Mingming Jia; David Richardson; Rebecca Shepherd; Richard Wooster; M Isabel Tejada; Francisco Martinez; Gemma Carvill; Rene Goliath; Arjan P M de Brouwer; Hans van Bokhoven; Hilde Van Esch; Jamel Chelly; Martine Raynaud; Hans-Hilger Ropers; Fatima E Abidi; Anand K Srivastava; James Cox; Ying Luo; Uma Mallya; Jenny Moon; Josef Parnau; Shehla Mohammed; John L Tolmie; Cheryl Shoubridge; Mark Corbett; Alison Gardner; Eric Haan; Sinitdhorn Rujirabanjerd; Marie Shaw; Lucianne Vandeleur; Tod Fullston; Douglas F Easton; Jackie Boyle; Michael Partington; Anna Hackett; Michael Field; Cindy Skinner; Roger E Stevenson; Martin Bobrow; Gillian Turner; Charles E Schwartz; Jozef Gecz; F Lucy Raymond; P Andrew Futreal; Michael R Stratton
Journal:  Nat Genet       Date:  2009-04-19       Impact factor: 38.330
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  225 in total

Review 1.  Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments.

Authors:  Jeremy Veenstra-VanderWeele; Randy D Blakely
Journal:  Neuropsychopharmacology       Date:  2011-09-21       Impact factor: 7.853

2.  Integrated genome and transcriptome sequencing identifies a novel form of hybrid and aggressive prostate cancer.

Authors:  Chunxiao Wu; Alexander W Wyatt; Anna V Lapuk; Andrew McPherson; Brian J McConeghy; Robert H Bell; Shawn Anderson; Anne Haegert; Sonal Brahmbhatt; Robert Shukin; Fan Mo; Estelle Li; Ladan Fazli; Antonio Hurtado-Coll; Edward C Jones; Yaron S Butterfield; Faraz Hach; Fereydoun Hormozdiari; Iman Hajirasouliha; Paul C Boutros; Robert G Bristow; Steven Jm Jones; Martin Hirst; Marco A Marra; Christopher A Maher; Arul M Chinnaiyan; S Cenk Sahinalp; Martin E Gleave; Stanislav V Volik; Colin C Collins
Journal:  J Pathol       Date:  2012-03-21       Impact factor: 7.996

Review 3.  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

4.  Drugmakers dance with autism.

Authors:  Sarah Webb
Journal:  Nat Biotechnol       Date:  2010-08       Impact factor: 54.908

5.  Another piece of the autism puzzle.

Authors:  Matthew W State
Journal:  Nat Genet       Date:  2010-06       Impact factor: 38.330

6.  The role of SHANK2 rare variants in schizophrenia susceptibility.

Authors:  J Costas
Journal:  Mol Psychiatry       Date:  2015-08-25       Impact factor: 15.992

7.  Common DNA methylation alterations in multiple brain regions in autism.

Authors:  C Ladd-Acosta; K D Hansen; E Briem; M D Fallin; W E Kaufmann; A P Feinberg
Journal:  Mol Psychiatry       Date:  2013-09-03       Impact factor: 15.992

8.  The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia.

Authors:  Amanda Crider; Anilkumar Pillai
Journal:  Curr Behav Neurosci Rep       Date:  2016-04-16

Review 9.  Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders.

Authors:  Young Shin Kim; Bennett L Leventhal
Journal:  Biol Psychiatry       Date:  2014-11-05       Impact factor: 13.382

Review 10.  The genetics of Autism Spectrum Disorders--a guide for clinicians.

Authors:  Karsten M Heil; Christian P Schaaf
Journal:  Curr Psychiatry Rep       Date:  2013-01       Impact factor: 5.285
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