Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
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{"title"=>"Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders", "type"=>"journal", "authors"=>[{"first_name"=>"Claire S.", "last_name"=>"Leblond", "scopus_author_id"=>"57192121072"}, {"first_name"=>"Jutta", "last_name"=>"Heinrich", "scopus_author_id"=>"54779937300"}, {"first_name"=>"Richard", "last_name"=>"Delorme", "scopus_author_id"=>"26425769200"}, {"first_name"=>"Christian", "last_name"=>"Proepper", "scopus_author_id"=>"14008903700"}, {"first_name"=>"Catalina", "last_name"=>"Betancur", "scopus_author_id"=>"24292620200"}, {"first_name"=>"Guillaume", "last_name"=>"Huguet", "scopus_author_id"=>"54381675200"}, {"first_name"=>"Marina", "last_name"=>"Konyukh", "scopus_author_id"=>"36463879400"}, {"first_name"=>"Pauline", "last_name"=>"Chaste", "scopus_author_id"=>"35780141800"}, {"first_name"=>"Elodie", "last_name"=>"Ey", "scopus_author_id"=>"55980123600"}, {"first_name"=>"Maria", "last_name"=>"Rastam", "scopus_author_id"=>"6701575832"}, {"first_name"=>"Henrik", "last_name"=>"Anckarsäter", "scopus_author_id"=>"54882141900"}, {"first_name"=>"Gudrun", "last_name"=>"Nygren", "scopus_author_id"=>"11142092800"}, {"first_name"=>"I. Carina", "last_name"=>"Gillberg", "scopus_author_id"=>"6701774200"}, {"first_name"=>"Jonas", "last_name"=>"Melke", "scopus_author_id"=>"6701486442"}, {"first_name"=>"Roberto", "last_name"=>"Toro", "scopus_author_id"=>"16417942000"}, {"first_name"=>"Beatrice", "last_name"=>"Regnault", "scopus_author_id"=>"6602455874"}, {"first_name"=>"Fabien", "last_name"=>"Fauchereau", "scopus_author_id"=>"6507500540"}, {"first_name"=>"Oriane", "last_name"=>"Mercati", "scopus_author_id"=>"36608501600"}, {"first_name"=>"Nathalie", "last_name"=>"Lemière", "scopus_author_id"=>"36608422100"}, {"first_name"=>"David", "last_name"=>"Skuse", "scopus_author_id"=>"7004857206"}, {"first_name"=>"Martin", "last_name"=>"Poot", "scopus_author_id"=>"7006476750"}, {"first_name"=>"Richard", "last_name"=>"Holt", "scopus_author_id"=>"7402085399"}, {"first_name"=>"Anthony P.", "last_name"=>"Monaco", "scopus_author_id"=>"55704771100"}, {"first_name"=>"Irma", "last_name"=>"Järvelä", "scopus_author_id"=>"34769582300"}, {"first_name"=>"Katri", "last_name"=>"Kantojärvi", "scopus_author_id"=>"35848633700"}, {"first_name"=>"Raija", "last_name"=>"Vanhala", "scopus_author_id"=>"6603337133"}, {"first_name"=>"Sarah", "last_name"=>"Curran", "scopus_author_id"=>"55676019500"}, {"first_name"=>"David A.", "last_name"=>"Collier", "scopus_author_id"=>"26642980600"}, {"first_name"=>"Patrick", "last_name"=>"Bolton", "scopus_author_id"=>"22946425500"}, {"first_name"=>"Andreas", "last_name"=>"Chiocchetti", "scopus_author_id"=>"35073732600"}, {"first_name"=>"Sabine M.", "last_name"=>"Klauck", "scopus_author_id"=>"6701531086"}, {"first_name"=>"Fritz", "last_name"=>"Poustka", "scopus_author_id"=>"7005345388"}, {"first_name"=>"Christine M.", "last_name"=>"Freitag", "scopus_author_id"=>"7003868143"}, {"first_name"=>"Regina", "last_name"=>"Waltes", "scopus_author_id"=>"23394370900"}, {"first_name"=>"Marnie", "last_name"=>"Kopp", "scopus_author_id"=>"55156164700"}, {"first_name"=>"Eftichia", "last_name"=>"Duketis", "scopus_author_id"=>"25721952400"}, {"first_name"=>"Elena", "last_name"=>"Bacchelli", "scopus_author_id"=>"6507685887"}, {"first_name"=>"Fiorella", "last_name"=>"Minopoli", "scopus_author_id"=>"35277362500"}, {"first_name"=>"Liliana", "last_name"=>"Ruta", "scopus_author_id"=>"14822531100"}, {"first_name"=>"Agatino", "last_name"=>"Battaglia", "scopus_author_id"=>"7103154890"}, {"first_name"=>"Luigi", "last_name"=>"Mazzone", "scopus_author_id"=>"55665558200"}, {"first_name"=>"Elena", "last_name"=>"Maestrini", "scopus_author_id"=>"6701371736"}, {"first_name"=>"Ana F.", "last_name"=>"Sequeira", "scopus_author_id"=>"57197460425"}, {"first_name"=>"Barbara", "last_name"=>"Oliveira", "scopus_author_id"=>"55156370800"}, {"first_name"=>"Astrid", "last_name"=>"Vicente", "scopus_author_id"=>"7005820790"}, {"first_name"=>"Guiomar", "last_name"=>"Oliveira", "scopus_author_id"=>"15753920200"}, {"first_name"=>"Dalila", "last_name"=>"Pinto", "scopus_author_id"=>"7005542371"}, {"first_name"=>"Stephen W.", "last_name"=>"Scherer", "scopus_author_id"=>"35374654500"}, {"first_name"=>"Diana", "last_name"=>"Zelenika", "scopus_author_id"=>"6602756798"}, {"first_name"=>"Marc", "last_name"=>"Delepine", "scopus_author_id"=>"6602411185"}, {"first_name"=>"Mark", "last_name"=>"Lathrop", "scopus_author_id"=>"7006495387"}, {"first_name"=>"Dominique", "last_name"=>"Bonneau", "scopus_author_id"=>"7006128594"}, {"first_name"=>"Vincent", "last_name"=>"Guinchat", "scopus_author_id"=>"15026239500"}, {"first_name"=>"Françoise", "last_name"=>"Devillard", "scopus_author_id"=>"6505845991"}, {"first_name"=>"Brigitte", "last_name"=>"Assouline", "scopus_author_id"=>"56671191300"}, {"first_name"=>"Marie Christine", "last_name"=>"Mouren", "scopus_author_id"=>"7004009511"}, {"first_name"=>"Marion", "last_name"=>"Leboyer", "scopus_author_id"=>"7005287140"}, {"first_name"=>"Christopher", "last_name"=>"Gillberg", "scopus_author_id"=>"7101634220"}, {"first_name"=>"Tobias M.", "last_name"=>"Boeckers", "scopus_author_id"=>"6701408117"}, {"first_name"=>"Thomas", "last_name"=>"Bourgeron", "scopus_author_id"=>"7003474593"}], "year"=>2012, "source"=>"PLoS Genetics", "identifiers"=>{"scopus"=>"2-s2.0-84859066832", "sgr"=>"84859066832", "issn"=>"15537390", "doi"=>"10.1371/journal.pgen.1002521", "pmid"=>"22346768", "isbn"=>"10.1371/journal.pgen.1002521", "pui"=>"364547166"}, "id"=>"a4d9dc78-622e-3265-af75-39ca55631980", "abstract"=>"Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the \"multiple hit model\" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.", "link"=>"http://www.mendeley.com/research/genetic-functional-analyses-shank2-mutations-suggest-multiple-hit-model-autism-spectrum-disorders", "reader_count"=>259, "reader_count_by_academic_status"=>{"Unspecified"=>3, "Professor > Associate Professor"=>13, "Researcher"=>72, "Student > Doctoral Student"=>13, "Student > Ph. D. 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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/685628"], "description"=>"<p>Deletions (del) and duplications (dup) are indicated in red and blue, respectively. Paternally and maternally imprinted genes are indicated in yellow and pink, respectively. Genes altered by the CNVs are indicated in blue or red. The bottom part of the figure indicates the location of the deletions/duplications previously associated with neuropsychiatric disorders <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002521#pgen.1002521-Miller1\" target=\"_blank\">[43]</a>–<a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002521#pgen.1002521-deKovel1\" target=\"_blank\">[61]</a>. BP, breakpoint; Inh_M, inherited by mother; Inh_F, inherited by father; AS, Angelman syndrome; ASD, Autism spectrum disorders; ADHD, attention deficit-hyperactivity disorder; BP, bipolar disorder; DD: developmental delay; DBD, disruptive behavior disorder; EPI, epilepsy; GAD, generalized anxiety disorder; OCD, obsessive-compulsive disorder; ID, intellectual disability; PWS, Prader-Willi syndrome; SCZ, schizophrenia.</p>", "links"=>[], "tags"=>["cnvs", "asd", "patients", "shank2"], "article_id"=>356032, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.g006", "stats"=>{"downloads"=>1, "page_views"=>18, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Inherited_15q11_q13_CNVs_identified_in_three_ASD_patients_carrier_of_a_de_novo_SHANK2_deletion_/356032", "title"=>"Inherited 15q11–q13 CNVs identified in three ASD patients carrier of a <i>de novo</i> SHANK2 deletion.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-02-09 01:40:32"}
  • {"files"=>["https://ndownloader.figshare.com/files/685404"], "description"=>"<p>Paternally or maternally inherited CNVs are indicated by squares and circles, respectively. <i>De novo</i> CNVs are indicated by stars. Deletions and duplications are indicated in red and blue, respectively. CNVs hitting exons or only introns are filled with grey and white, respectively. Squares and circles within star represent <i>de novo</i> CNV of paternal or maternal origin; circles within squares represent CNV inherited by father or mother. ABCC6, ATP-binding cassette, sub-family C, member 6 pseudogene 2; ADAM, ADAM metallopeptidase; AMY1, amylase (salivary); AMY2A, amylase (pancreatic); ARHGAP11B, Rho GTPase activating protein 11B; CAMSAP1L1, calmodulin regulated spectrin-associated protein 1-like 1; CHRNA7, cholinergic receptor, nicotinic, alpha 7; CNTN4, contactin 4; CTNNA3, catenin (cadherin-associated protein), alpha 3; CYFIP1, cytoplasmic FMR1 interacting protein 1; DUSP22, dual specificity phosphatase 22; GALM, galactose mutarotase; GCNT2, glucosaminyl (N-acetyl) transferase 2; GOLGA, golgi autoantigen, golgin subfamily a; GSTT1, glutathione S-transferase theta 1; HLA-DRB, major histocompatibility complex, class II, DR beta; LAMA4, laminin, alpha 4; NIPA, non imprinted in Prader-Willi/Angelman syndrome; NLGN1, neuroligin 1; NME7, non-metastatic cells 7; OR, olfactory receptor; PCDHA, protocadherin alpha; RFPL4B, ret finger protein-like 4B; RHD, Rh blood group, D antigen; SFMBT1, Scm-like with four mbt domains 1; SHANK2, SH3 and multiple ankyrin repeat domains 2; SMC2, structural maintenance of chromosomes 2; TNS3, tensin 3; TUBGCP5, tubulin, gamma complex associated protein 5; UGT2B17, UDP glucuronosyltransferase 2 family, polypeptide B17.</p>", "links"=>[], "tags"=>["cnvs", "patients", "carrying", "deletion"], "article_id"=>355809, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.g005", "stats"=>{"downloads"=>4, "page_views"=>24, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characterization_of_CNVs_in_three_patients_carrying_a_de_novo_deletion_of_SHANK2_/355809", "title"=>"Characterization of CNVs in three patients carrying a <i>de novo</i> deletion of <i>SHANK2</i>.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-02-09 01:36:49"}
  • {"files"=>["https://ndownloader.figshare.com/files/685873"], "description"=>"a<p>Nucleotide positions are according to <i>NM 012309.3</i> from NCBI36/hg18 on the positive DNA strand; The patients with ASD and the controls used for this analysis came from this study (455 ASD & 431 controls) and from the study of Berkel <i>et al.</i> 2010 (396 ASD & 659 controls);</p>b<p>A screening of V717F, A729T, R818H, G1170R, D1535N and L1722P was performed in 948 subjects from the Human Genome Diversity Panel (V717F = 0/948; A729T = 0/948; R818H = 5/948; G1170R = 0/948; D1535N = 0/948; L1722P = 0/948);</p>c<p>A screen of R818H was performed in additional patients and controls (ASD 32/3250 (1.0%); controls 27/2030 (1.33%); Fisher's exact test 2-sided, P = 0.28). Fisher's exact test was used for statistical analysis;</p>d<p>“Yes” indicates if amino acid is conserved in SHANK1 (S1), SHANK3 (S3) or both (S1 & S3); MAF, Minor Allele Frequency.</p>", "links"=>[], "tags"=>["variations", "851", "patients", "asd"], "article_id"=>356258, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.t001", "stats"=>{"downloads"=>1, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_ProSAP1A_SHANK2_variations_identified_in_851_patients_with_ASD_and_1_090_controls_/356258", "title"=>"<i>ProSAP1A/SHANK2</i> variations identified in 851 patients with ASD and 1,090 controls.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2012-02-09 01:44:18"}
  • {"files"=>["https://ndownloader.figshare.com/files/349287", "https://ndownloader.figshare.com/files/349400", "https://ndownloader.figshare.com/files/349474", "https://ndownloader.figshare.com/files/349634", "https://ndownloader.figshare.com/files/349717", "https://ndownloader.figshare.com/files/349746", "https://ndownloader.figshare.com/files/349794", "https://ndownloader.figshare.com/files/349839", "https://ndownloader.figshare.com/files/349879", "https://ndownloader.figshare.com/files/349931", "https://ndownloader.figshare.com/files/349980", "https://ndownloader.figshare.com/files/350013", "https://ndownloader.figshare.com/files/350053", "https://ndownloader.figshare.com/files/350085", "https://ndownloader.figshare.com/files/350120", "https://ndownloader.figshare.com/files/350153"], "description"=>"<div><p>Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two <em>de novo SHANK2</em> deletions by the Autism Genome Project, we identified a novel 421 kb <em>de novo SHANK2</em> deletion in a patient with autism. We then sequenced <em>SHANK2</em> in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel <em>et al.</em> 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23–4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with <em>de novo SHANK2</em> deletions also carried inherited CNVs at 15q11–q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor <em>CHRNA7</em> was duplicated and in one case the synaptic translation repressor <em>CYFIP1</em> was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.</p> </div>", "links"=>[], "tags"=>["analyses", "mutations", "autism", "disorders"], "article_id"=>129027, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1002521.s001", "https://dx.doi.org/10.1371/journal.pgen.1002521.s002", "https://dx.doi.org/10.1371/journal.pgen.1002521.s003", "https://dx.doi.org/10.1371/journal.pgen.1002521.s004", "https://dx.doi.org/10.1371/journal.pgen.1002521.s005", "https://dx.doi.org/10.1371/journal.pgen.1002521.s006", "https://dx.doi.org/10.1371/journal.pgen.1002521.s007", "https://dx.doi.org/10.1371/journal.pgen.1002521.s008", "https://dx.doi.org/10.1371/journal.pgen.1002521.s009", "https://dx.doi.org/10.1371/journal.pgen.1002521.s010", "https://dx.doi.org/10.1371/journal.pgen.1002521.s011", "https://dx.doi.org/10.1371/journal.pgen.1002521.s012", "https://dx.doi.org/10.1371/journal.pgen.1002521.s013", "https://dx.doi.org/10.1371/journal.pgen.1002521.s014", "https://dx.doi.org/10.1371/journal.pgen.1002521.s015", "https://dx.doi.org/10.1371/journal.pgen.1002521.s016"], "stats"=>{"downloads"=>86, "page_views"=>130, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genetic_and_Functional_Analyses_of_SHANK2_Mutations_Suggest_a_Multiple_Hit_Model_of_Autism_Spectrum_Disorders/129027", "title"=>"Genetic and Functional Analyses of <em>SHANK2</em> Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2012-02-09 02:30:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/684969"], "description"=>"<p>A. <i>SHANK2</i> splice mutation (IVS22+1G>T) detected in a Swedish female control, SWE_Q56_508. The mutation altered the donor splicing site of exon 22 and led to a premature stop in all <i>SHANK2</i> isoforms except for the <i>AF1411901</i> isoform, where it altered the protein sequence (G263V). B. CNVs in the same individual altering <i>LOC339822</i>, <i>SNTG2</i>, <i>PXDN</i> and <i>MYT1L</i>. The two close duplications span 264 kb and 245 kb on chromosome 2 and altered <i>LOC339822</i> and <i>SNTG2</i>, and <i>PXDN</i> and <i>MYT1L</i>, respectively. Dots show the B allele frequency (BAF; in green), Log R ratio (LRR; in red), and QuantiSNP score (in blue). Lower panel: all CNVs listed in the Database of Genomic Variants (DGV) are represented: loss (in red), gain (in blue), gain or loss (in brown). H, homer binding site; D, dynamin binding site; C, cortactin binding site.</p>", "links"=>[], "tags"=>["alterations"], "article_id"=>355370, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.g003", "stats"=>{"downloads"=>3, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genetic_alterations_identified_in_the_control_subject_SWE_Q56_508_/355370", "title"=>"Genetic alterations identified in the control subject SWE_Q56_508.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-02-09 01:29:30"}
  • {"files"=>["https://ndownloader.figshare.com/files/685169"], "description"=>"<p>A. The colocalization of <i>ProSAP1A/SHANK2</i>-EGFP (postsynaptic marker) and Bassoon (presynaptic marker) indicated that the mutations did not disturb the formation of SHANK2 clusters at excitatory synapses along the dendrites. B. The quantification of synapse density was performed on 20 transfected hippocampal neurons per construct from at least three independent experiments. The majority of the <i>ProSAP1A</i> variants affecting a conserved amino acid among SHANK proteins reduced significantly the synaptic density compared with the variants that affect amino acid non conserved among SHANK proteins (Mann-Whitney U-test: n<sub>WT</sub> = 20, n<sub>mut</sub> = 20; U<sub>S557N</sub> = 82.5, p<sub>S557N</sub> = 0.001; U<sub>R569H</sub> = 124, p<sub>R569H</sub> = 0.04; U<sub>L629P</sub> = 149, p<sub>L629P</sub> = 0.17; U<sub>V717F</sub> = 114, p<sub>V717F</sub> = 0.02; U<sub>A729T</sub> = 73, p<sub>A729T</sub> = 0.000; U<sub>K780Q</sub> = 154, p<sub>K780Q</sub> = 0.221; U<sub>R818H</sub> = 108, p<sub>R818H</sub> = 0.012; U<sub>A822T</sub> = 154.5, p<sub>A822T</sub> = 0.224; U<sub>V823M</sub> = 129, p<sub>V823M</sub> = 0.056; U<sub>Y967C</sub> = 134, p<sub>Y967C</sub> = 0.076; U<sub>G1170R</sub> = 78, p<sub>G1170R</sub> = 0.001; U<sub>R1290W</sub> = 142, p<sub>R1290W</sub> = 0.121; U<sub>Q1308R</sub> = 162, p<sub>Q1308R</sub> = 0.314; U<sub>D1535N</sub> = 97, p<sub>D1535N</sub> = 0.005; U<sub>P1586L</sub> = 137, p<sub>P1586L</sub> = 0.910; U<sub>L1722P</sub> = 79, p<sub>L1722P</sub> = 0.001, *p<0.05, **p<0.01, ***p<0.001). <b>C.</b> Effect of the variants on synaptic density. The y-axis represents −log P compared to WT (P obtained with Mann-Whitney test). After Bonferroni correction for 16 tests, only P values<0.003 were considered as significant. Variants represented in red were specific to ASD, in orange were shared by ASD and controls, and in green were specific to the controls. Open circles and filled circles represent non conserved and conserved amino acids, respectively. Prim, primary; second, secondary.</p>", "links"=>[], "tags"=>["mutations", "cultured", "neuronal"], "article_id"=>355565, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.g004", "stats"=>{"downloads"=>2, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characterization_of_the_functional_impact_of_SHANK2_mutations_in_cultured_neuronal_cells_/355565", "title"=>"Characterization of the functional impact of <i>SHANK2</i> mutations in cultured neuronal cells.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-02-09 01:32:45"}
  • {"files"=>["https://ndownloader.figshare.com/files/684507"], "description"=>"<p>A. Genomic structure of the human <i>SHANK2</i> gene. Transcription of <i>SHANK2</i> produces four main mRNA from three distinct promoters: <i>SHANK2E</i> (<i>AB208025</i>), <i>ProSAP1A</i> (<i>AB208026</i>), <i>ProSAP1</i> (<i>AB208027</i>) and <i>AF141901</i>. There are three translation starts: in exon 2 for <i>SHANK2E</i>, in exon1b for <i>ProSAP1A</i>, and in exon1c for <i>ProSAP1</i> and <i>AF141901</i>; and two independent stop codons: in exon 22b for <i>AF141901</i> and in exon 25 for <i>SHANK2E</i>, <i>ProSAP1A</i> and <i>ProSAP1</i>. Conserved domains of protein interaction or protein binding site are represented in color: ANK (red), SH3 (orange), PDZ (blue) and SAM (green), H (pink), D, (dark blue) and C (purple). Black stars identify the alternative spliced exons (‘brain-specific exons’ in turquoise: 19, 20 and 23). B. RT-PCRs of <i>SHANK2</i> isoforms on RNA from different human control tissues (Clontech), and different brain regions of four controls (2 males and 2 females). The amplified regions specific to each isoform of <i>SHANK2</i> are indicated by gray boxes. C. Alternative splicing of human <i>SHANK2</i>; exons 19, 20 and 23 are specific to the brain. ANK, ankyrin; SH3, Src homology 3; PDZ, PSD95/DLG/ZO1; SAM, sterile alpha motif; He, heart; Li, liver; B, brain; SM, skeletal muscle; Pl, placenta; K, kidney; Lu, lung; Pa, pancreas; FC, frontal cortex; Hi, hippocampus; TC, temporal cortex; T, thalamus; OC, occipital cortex; Ce, cerebellum; Cx, whole cortex; BLCL, B lymphoblastoid cell lines; GAPDH, glyceraldehyde 3-phosphate dehydrogenase; BSR, brain specific region; H, homer binding site; D, dynamin binding site; C, cortactin binding site. The ages of the two males and the two females studied were 74, 42, 55, and 36 years with a post-mortem interval of 10, 21, 24, and 2 h, respectively.</p>", "links"=>[], "tags"=>["genetics and genomics", "Mental health", "neuroscience"], "article_id"=>354895, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.g001", "stats"=>{"downloads"=>0, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genomic_structure_isoforms_and_expression_of_human_SHANK2_/354895", "title"=>"Genomic structure, isoforms, and expression of human <i>SHANK2</i>.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-02-09 01:21:35"}
  • {"files"=>["https://ndownloader.figshare.com/files/684722"], "description"=>"<p>A. A heterozygous deletion of <i>SHANK2</i> was identified with the Illumina Human 1M-Duo SNP array in a patient with autism (AU038_3). The deletion spans 421 kb on chromosome 11q13.3, covers twelve exons of the human <i>SHANK2</i> and is not present in the parents. Each dot shows Log R Ratio (LRR; in red) and B allele frequency (BAF; in green). QuantiSNP score is represented with a blue line and indicates the deletion size. B. Location of the CNV and sequence variants (from this study and Berkel <i>et al.</i> 2010) along the SHANK2 protein: in red the variations specific to ASD, in orange the variations shared by ASD and controls and in green the variations specific to controls <a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002521#pgen.1002521-Berkel1\" target=\"_blank\">[26]</a>. The breakpoints of the <i>SHANK2</i> deletion in AU038_3 are represented with a dotted line on the protein. Stars indicate the variants affecting conserved amino acids. C. A total of 40 variants were identified and variants affecting conserved amino acids in other SHANK proteins are enriched in patients with ASD (n<sub>conserved</sub> = 12 and n<sub>non-conserved</sub> = 3) compared with controls (n<sub>conserved</sub> = 6 and n<sub>non-conserved</sub> = 11) (Fisher's exact test 1-sided, P = 0.013, OR = 6.83, 95% IC = 1.19–53.40). D. The percentage of carriers of <i>SHANK2</i> variants in patients with ASD and Controls. Variants affecting a conserved amino acid among the SHANK proteins are enriched in patients with ASD (n<sub>conserved</sub> = 29 and n<sub>non-conserved</sub> = 822) compared with controls (n<sub>conserved</sub> = 16 and n<sub>non-conserved</sub> = 1074) (Fisher's exact test 1-sided, P = 0.004, OR = 2.37, 95% CI = 1.23–4.70). Open squares and filled squares represent the non-conserved and conserved amino acids, respectively. ANK, Ankyrin repeat domain; SH3, Src homology 3 domain; PDZ, postsynaptic density 95/Discs large/zona occludens-1 homology domain; SAM, sterile alpha motif domain; BSR, brain specific region; H, homer binding site; D, dynamin binding site; C, cortactin binding site. The proline-rich region is represented as a horizontal gray line.</p>", "links"=>[], "tags"=>["mutations", "patients"], "article_id"=>355131, "categories"=>["Mental Health", "Neuroscience", "Genetics"], "users"=>["Claire S. Leblond", "Jutta Heinrich", "Richard Delorme", "Christian Proepper", "Catalina Betancur", "Guillaume Huguet", "Marina Konyukh", "Pauline Chaste", "Elodie Ey", "Maria Rastam", "Henrik Anckarsäter", "Gudrun Nygren", "I. Carina Gillberg", "Jonas Melke", "Roberto Toro", "Béatrice Regnault", "Fabien Fauchereau", "Oriane Mercati", "Nathalie Lemière", "David Skuse", "Martin Poot", "Richard Holt", "Anthony P. Monaco", "Irma Järvelä", "Katri Kantojärvi", "Raija Vanhala", "Sarah Curran", "David A. Collier", "Patrick Bolton", "Andreas Chiocchetti", "Sabine M. Klauck", "Fritz Poustka", "Christine M. Freitag", "Regina Waltes", "Marnie Kopp", "Eftichia Duketis", "Elena Bacchelli", "Fiorella Minopoli", "Liliana Ruta", "Agatino Battaglia", "Luigi Mazzone", "Elena Maestrini", "Ana F. Sequeira", "Barbara Oliveira", "Astrid Vicente", "Guiomar Oliveira", "Dalila Pinto", "Stephen W. Scherer", "Diana Zelenika", "Marc Delepine", "Mark Lathrop", "Dominique Bonneau", "Vincent Guinchat", "Françoise Devillard", "Brigitte Assouline", "Marie-Christine Mouren", "Marion Leboyer", "Christopher Gillberg", "Tobias M. Boeckers", "Thomas Bourgeron"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1002521.g002", "stats"=>{"downloads"=>1, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_SHANK2_mutations_in_patients_with_ASD_/355131", "title"=>"<i>SHANK2</i> mutations in patients with ASD.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2012-02-09 01:25:31"}

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