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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects... Full description

Journal Title: American journal of human genetics 2014, Vol.94 (5), p.677-694
Main Author: Pinto, Dalila
Other Authors: Delaby, Elsa , Merico, Daniele , Barbosa, Mafalda , Merikangas, Alison , Klei, Lambertus , Thiruvahindrapuram, Bhooma , Xu, Xiao , Ziman, Robert , Vorstman, Jacob A.S , Thompson, Ann , Regan, Regina , Pilorge, Marion , Pellecchia, Giovanna , Pagnamenta, Alistair T , Oliveira, Bárbara , Marshall, Christian R , Magalhaes, Tiago R , Lowe, Jennifer K , Gilbert, John , Duketis, Eftichia , De Jonge, Maretha V , Cuccaro, Michael , Crawford, Emily L , Correia, Catarina T , Conroy, Judith , Conceição, Inês C , Chiocchetti, Andreas G , Casey, Jillian P , Cai, Guiqing , Cabrol, Christelle , Bacchelli, Elena , Gallinger, Steven , Cotterchio, Michelle , Zwaigenbaum, Lonnie , Wittemeyer, Kerstin , Wing, Kirsty , van Engeland, Herman , Tryfon, Ana , Thomson, Susanne , Rogé, Bernadette , Roberts, Wendy , Poustka, Fritz , Mouga, Susana , Minshew, Nancy , McInnes, L. Alison , McGrew, Susan G , Lord, Catherine , Leboyer, Marion , Le Couteur, Ann S , Kolevzon, Alexander , Jiménez González, Patricia , Jacob, Suma , Holt, Richard , Guter, Stephen , Green, Jonathan , Green, Andrew , Gillberg, Christopher , Fernandez, Bridget A , Duque, Frederico , Delorme, Richard , Dawson, Geraldine , Chaste, Pauline , Café, Cátia , Brennan, Sean , Bourgeron, Thomas , Bolton, Patrick F , Bernier, Raphael , Baird, Gillian , Bailey, Anthony J , Almeida, Joana , Wijsman, Ellen M , Vicente, Astrid M , Schellenberg, Gerard D , Pericak-Vance, Margaret , Paterson, Andrew D , Parr, Jeremy R , Oliveira, Guiomar , Nurnberger, John I , Monaco, Anthony P , Maestrini, Elena , Klauck, Sabine M , Hakonarson, Hakon , Haines, Jonathan L , Geschwind, Daniel H , Freitag, Christine M , Folstein, Susan E , Ennis, Sean , Coon, Hilary , Battaglia, Agatino , Szatmari, Peter , Sutcliffe, James S , Hallmayer, Joachim , Gill, Michael , Cook, Edwin H , Buxbaum, Joseph D , Devlin, Bernie , Gallagher, Louise , Betancur, Catalina , Scherer, Stephen W
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: United States: Elsevier Inc
ID: ISSN: 0002-9297
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title: Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
format: Article
creator:
  • Pinto, Dalila
  • Delaby, Elsa
  • Merico, Daniele
  • Barbosa, Mafalda
  • Merikangas, Alison
  • Klei, Lambertus
  • Thiruvahindrapuram, Bhooma
  • Xu, Xiao
  • Ziman, Robert
  • Vorstman, Jacob A.S
  • Thompson, Ann
  • Regan, Regina
  • Pilorge, Marion
  • Pellecchia, Giovanna
  • Pagnamenta, Alistair T
  • Oliveira, Bárbara
  • Marshall, Christian R
  • Magalhaes, Tiago R
  • Lowe, Jennifer K
  • Gilbert, John
  • Duketis, Eftichia
  • De Jonge, Maretha V
  • Cuccaro, Michael
  • Crawford, Emily L
  • Correia, Catarina T
  • Conroy, Judith
  • Conceição, Inês C
  • Chiocchetti, Andreas G
  • Casey, Jillian P
  • Cai, Guiqing
  • Cabrol, Christelle
  • Bacchelli, Elena
  • Gallinger, Steven
  • Cotterchio, Michelle
  • Zwaigenbaum, Lonnie
  • Wittemeyer, Kerstin
  • Wing, Kirsty
  • van Engeland, Herman
  • Tryfon, Ana
  • Thomson, Susanne
  • Rogé, Bernadette
  • Roberts, Wendy
  • Poustka, Fritz
  • Mouga, Susana
  • Minshew, Nancy
  • McInnes, L. Alison
  • McGrew, Susan G
  • Lord, Catherine
  • Leboyer, Marion
  • Le Couteur, Ann S
  • Kolevzon, Alexander
  • Jiménez González, Patricia
  • Jacob, Suma
  • Holt, Richard
  • Guter, Stephen
  • Green, Jonathan
  • Green, Andrew
  • Gillberg, Christopher
  • Fernandez, Bridget A
  • Duque, Frederico
  • Delorme, Richard
  • Dawson, Geraldine
  • Chaste, Pauline
  • Café, Cátia
  • Brennan, Sean
  • Bourgeron, Thomas
  • Bolton, Patrick F
  • Bernier, Raphael
  • Baird, Gillian
  • Bailey, Anthony J
  • Almeida, Joana
  • Wijsman, Ellen M
  • Vicente, Astrid M
  • Schellenberg, Gerard D
  • Pericak-Vance, Margaret
  • Paterson, Andrew D
  • Parr, Jeremy R
  • Oliveira, Guiomar
  • Nurnberger, John I
  • Monaco, Anthony P
  • Maestrini, Elena
  • Klauck, Sabine M
  • Hakonarson, Hakon
  • Haines, Jonathan L
  • Geschwind, Daniel H
  • Freitag, Christine M
  • Folstein, Susan E
  • Ennis, Sean
  • Coon, Hilary
  • Battaglia, Agatino
  • Szatmari, Peter
  • Sutcliffe, James S
  • Hallmayer, Joachim
  • Gill, Michael
  • Cook, Edwin H
  • Buxbaum, Joseph D
  • Devlin, Bernie
  • Gallagher, Louise
  • Betancur, Catalina
  • Scherer, Stephen W
subjects:
  • Article
  • Autism
  • Child
  • Child Development Disorders, Pervasive - genetics
  • Chromatin
  • Copy Number Variation
  • de novo
  • DNA Copy Number Variations
  • Female
  • gene networks
  • Gene Regulatory Networks
  • Genes
  • Genetic aspects
  • Genetic code
  • Genetic research
  • Genetic variation
  • Genetics
  • Genetics(clinical)
  • Humans
  • inherited
  • Learning disabilities
  • Life Sciences
  • Male
  • Medicin och hälsovetenskap
  • mental disorders
  • Metabolic Networks and Pathways - genetics
  • Multigene Family
  • Neurological disorders
  • pathways
  • Pedigree
  • Proteins
  • Psychiatry
  • Psykiatri
  • rare CNV
  • Sequence Deletion
ispartof: American journal of human genetics, 2014, Vol.94 (5), p.677-694
description: Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
  • 1537-6605
url: Link


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titleConvergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
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creatorPinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Vorstman, Jacob A.S ; Thompson, Ann ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T ; Oliveira, Bárbara ; Marshall, Christian R ; Magalhaes, Tiago R ; Lowe, Jennifer K ; Gilbert, John ; Duketis, Eftichia ; De Jonge, Maretha V ; Cuccaro, Michael ; Crawford, Emily L ; Correia, Catarina T ; Conroy, Judith ; Conceição, Inês C ; Chiocchetti, Andreas G ; Casey, Jillian P ; Cai, Guiqing ; Cabrol, Christelle ; Bacchelli, Elena ; Gallinger, Steven ; Cotterchio, Michelle ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; van Engeland, Herman ; Tryfon, Ana ; Thomson, Susanne ; Rogé, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy ; McInnes, L. Alison ; McGrew, Susan G ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann S ; Kolevzon, Alexander ; Jiménez González, Patricia ; Jacob, Suma ; Holt, Richard ; Guter, Stephen ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J ; Almeida, Joana ; Wijsman, Ellen M ; Vicente, Astrid M ; Schellenberg, Gerard D ; Pericak-Vance, Margaret ; Paterson, Andrew D ; Parr, Jeremy R ; Oliveira, Guiomar ; Nurnberger, John I ; Monaco, Anthony P ; Maestrini, Elena ; Klauck, Sabine M ; Hakonarson, Hakon ; Haines, Jonathan L ; Geschwind, Daniel H ; Freitag, Christine M ; Folstein, Susan E ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H ; Buxbaum, Joseph D ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W
creatorcontribPinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Vorstman, Jacob A.S ; Thompson, Ann ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T ; Oliveira, Bárbara ; Marshall, Christian R ; Magalhaes, Tiago R ; Lowe, Jennifer K ; Gilbert, John ; Duketis, Eftichia ; De Jonge, Maretha V ; Cuccaro, Michael ; Crawford, Emily L ; Correia, Catarina T ; Conroy, Judith ; Conceição, Inês C ; Chiocchetti, Andreas G ; Casey, Jillian P ; Cai, Guiqing ; Cabrol, Christelle ; Bacchelli, Elena ; Gallinger, Steven ; Cotterchio, Michelle ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; van Engeland, Herman ; Tryfon, Ana ; Thomson, Susanne ; Rogé, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy ; McInnes, L. Alison ; McGrew, Susan G ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann S ; Kolevzon, Alexander ; Jiménez González, Patricia ; Jacob, Suma ; Holt, Richard ; Guter, Stephen ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J ; Almeida, Joana ; Wijsman, Ellen M ; Vicente, Astrid M ; Schellenberg, Gerard D ; Pericak-Vance, Margaret ; Paterson, Andrew D ; Parr, Jeremy R ; Oliveira, Guiomar ; Nurnberger, John I ; Monaco, Anthony P ; Maestrini, Elena ; Klauck, Sabine M ; Hakonarson, Hakon ; Haines, Jonathan L ; Geschwind, Daniel H ; Freitag, Christine M ; Folstein, Susan E ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H ; Buxbaum, Joseph D ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W ; Gillberg Neuropsychiatry Centre ; Sahlgrenska akademin ; Göteborgs universitet ; Gothenburg University ; Gillbergcentrum ; Sahlgrenska Academy
descriptionRare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
identifier
0ISSN: 0002-9297
1ISSN: 1537-6605
2EISSN: 1537-6605
3DOI: 10.1016/j.ajhg.2014.03.018
4PMID: 24768552
languageeng
publisherUnited States: Elsevier Inc
subjectArticle ; Autism ; Child ; Child Development Disorders, Pervasive - genetics ; Chromatin ; Copy Number Variation ; de novo ; DNA Copy Number Variations ; Female ; gene networks ; Gene Regulatory Networks ; Genes ; Genetic aspects ; Genetic code ; Genetic research ; Genetic variation ; Genetics ; Genetics(clinical) ; Humans ; inherited ; Learning disabilities ; Life Sciences ; Male ; Medicin och hälsovetenskap ; mental disorders ; Metabolic Networks and Pathways - genetics ; Multigene Family ; Neurological disorders ; pathways ; Pedigree ; Proteins ; Psychiatry ; Psykiatri ; rare CNV ; Sequence Deletion
ispartofAmerican journal of human genetics, 2014, Vol.94 (5), p.677-694
rights
02014 The Authors
1Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.
2COPYRIGHT 2014 Elsevier B.V.
3Copyright Cell Press May 1, 2014
4Distributed under a Creative Commons Attribution 4.0 International License
52014 The Authors 2014
lds50peer_reviewed
oafree_for_read
citedbyFETCH-LOGICAL-11071t-7fd25d94f3b765c11fc7da4dc67ac1b510ba8e874a16e3b3a0f5a7a082be25913
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3$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:128922716$$DView record from Swedish Publication Index
search
creatorcontrib
0Pinto, Dalila
1Delaby, Elsa
2Merico, Daniele
3Barbosa, Mafalda
4Merikangas, Alison
5Klei, Lambertus
6Thiruvahindrapuram, Bhooma
7Xu, Xiao
8Ziman, Robert
9Vorstman, Jacob A.S
10Thompson, Ann
11Regan, Regina
12Pilorge, Marion
13Pellecchia, Giovanna
14Pagnamenta, Alistair T
15Oliveira, Bárbara
16Marshall, Christian R
17Magalhaes, Tiago R
18Lowe, Jennifer K
19Gilbert, John
20Duketis, Eftichia
21De Jonge, Maretha V
22Cuccaro, Michael
23Crawford, Emily L
24Correia, Catarina T
25Conroy, Judith
26Conceição, Inês C
27Chiocchetti, Andreas G
28Casey, Jillian P
29Cai, Guiqing
30Cabrol, Christelle
31Bacchelli, Elena
32Gallinger, Steven
33Cotterchio, Michelle
34Zwaigenbaum, Lonnie
35Wittemeyer, Kerstin
36Wing, Kirsty
37van Engeland, Herman
38Tryfon, Ana
39Thomson, Susanne
40Rogé, Bernadette
41Roberts, Wendy
42Poustka, Fritz
43Mouga, Susana
44Minshew, Nancy
45McInnes, L. Alison
46McGrew, Susan G
47Lord, Catherine
48Leboyer, Marion
49Le Couteur, Ann S
50Kolevzon, Alexander
51Jiménez González, Patricia
52Jacob, Suma
53Holt, Richard
54Guter, Stephen
55Green, Jonathan
56Green, Andrew
57Gillberg, Christopher
58Fernandez, Bridget A
59Duque, Frederico
60Delorme, Richard
61Dawson, Geraldine
62Chaste, Pauline
63Café, Cátia
64Brennan, Sean
65Bourgeron, Thomas
66Bolton, Patrick F
67Bernier, Raphael
68Baird, Gillian
69Bailey, Anthony J
70Almeida, Joana
71Wijsman, Ellen M
72Vicente, Astrid M
73Schellenberg, Gerard D
74Pericak-Vance, Margaret
75Paterson, Andrew D
76Parr, Jeremy R
77Oliveira, Guiomar
78Nurnberger, John I
79Monaco, Anthony P
80Maestrini, Elena
81Klauck, Sabine M
82Hakonarson, Hakon
83Haines, Jonathan L
84Geschwind, Daniel H
85Freitag, Christine M
86Folstein, Susan E
87Ennis, Sean
88Coon, Hilary
89Battaglia, Agatino
90Szatmari, Peter
91Sutcliffe, James S
92Hallmayer, Joachim
93Gill, Michael
94Cook, Edwin H
95Buxbaum, Joseph D
96Devlin, Bernie
97Gallagher, Louise
98Betancur, Catalina
99Scherer, Stephen W
100Gillberg Neuropsychiatry Centre
101Sahlgrenska akademin
102Göteborgs universitet
103Gothenburg University
104Gillbergcentrum
105Sahlgrenska Academy
title
0Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
1American journal of human genetics
addtitleAm J Hum Genet
descriptionRare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
subject
0Article
1Autism
2Child
3Child Development Disorders, Pervasive - genetics
4Chromatin
5Copy Number Variation
6de novo
7DNA Copy Number Variations
8Female
9gene networks
10Gene Regulatory Networks
11Genes
12Genetic aspects
13Genetic code
14Genetic research
15Genetic variation
16Genetics
17Genetics(clinical)
18Humans
19inherited
20Learning disabilities
21Life Sciences
22Male
23Medicin och hälsovetenskap
24mental disorders
25Metabolic Networks and Pathways - genetics
26Multigene Family
27Neurological disorders
28pathways
29Pedigree
30Proteins
31Psychiatry
32Psykiatri
33rare CNV
34Sequence Deletion
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0Pinto, Dalila
1Delaby, Elsa
2Merico, Daniele
3Barbosa, Mafalda
4Merikangas, Alison
5Klei, Lambertus
6Thiruvahindrapuram, Bhooma
7Xu, Xiao
8Ziman, Robert
9Vorstman, Jacob A.S
10Thompson, Ann
11Regan, Regina
12Pilorge, Marion
13Pellecchia, Giovanna
14Pagnamenta, Alistair T
15Oliveira, Bárbara
16Marshall, Christian R
17Magalhaes, Tiago R
18Lowe, Jennifer K
19Gilbert, John
20Duketis, Eftichia
21De Jonge, Maretha V
22Cuccaro, Michael
23Crawford, Emily L
24Correia, Catarina T
25Conroy, Judith
26Conceição, Inês C
27Chiocchetti, Andreas G
28Casey, Jillian P
29Cai, Guiqing
30Cabrol, Christelle
31Bacchelli, Elena
32Gallinger, Steven
33Cotterchio, Michelle
34Zwaigenbaum, Lonnie
35Wittemeyer, Kerstin
36Wing, Kirsty
37van Engeland, Herman
38Tryfon, Ana
39Thomson, Susanne
40Rogé, Bernadette
41Roberts, Wendy
42Poustka, Fritz
43Mouga, Susana
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45McInnes, L. Alison
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48Leboyer, Marion
49Le Couteur, Ann S
50Kolevzon, Alexander
51Jiménez González, Patricia
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53Holt, Richard
54Guter, Stephen
55Green, Jonathan
56Green, Andrew
57Gillberg, Christopher
58Fernandez, Bridget A
59Duque, Frederico
60Delorme, Richard
61Dawson, Geraldine
62Chaste, Pauline
63Café, Cátia
64Brennan, Sean
65Bourgeron, Thomas
66Bolton, Patrick F
67Bernier, Raphael
68Baird, Gillian
69Bailey, Anthony J
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71Wijsman, Ellen M
72Vicente, Astrid M
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74Pericak-Vance, Margaret
75Paterson, Andrew D
76Parr, Jeremy R
77Oliveira, Guiomar
78Nurnberger, John I
79Monaco, Anthony P
80Maestrini, Elena
81Klauck, Sabine M
82Hakonarson, Hakon
83Haines, Jonathan L
84Geschwind, Daniel H
85Freitag, Christine M
86Folstein, Susan E
87Ennis, Sean
88Coon, Hilary
89Battaglia, Agatino
90Szatmari, Peter
91Sutcliffe, James S
92Hallmayer, Joachim
93Gill, Michael
94Cook, Edwin H
95Buxbaum, Joseph D
96Devlin, Bernie
97Gallagher, Louise
98Betancur, Catalina
99Scherer, Stephen W
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0Elsevier Inc
1Elsevier B.V
2Cell Press
3Elsevier (Cell Press)
4Elsevier BV
5Elsevier
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orcididhttps://orcid.org/0000-0002-3327-4804
sort
creationdate20140501
titleConvergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
authorPinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Vorstman, Jacob A.S ; Thompson, Ann ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T ; Oliveira, Bárbara ; Marshall, Christian R ; Magalhaes, Tiago R ; Lowe, Jennifer K ; Gilbert, John ; Duketis, Eftichia ; De Jonge, Maretha V ; Cuccaro, Michael ; Crawford, Emily L ; Correia, Catarina T ; Conroy, Judith ; Conceição, Inês C ; Chiocchetti, Andreas G ; Casey, Jillian P ; Cai, Guiqing ; Cabrol, Christelle ; Bacchelli, Elena ; Gallinger, Steven ; Cotterchio, Michelle ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; van Engeland, Herman ; Tryfon, Ana ; Thomson, Susanne ; Rogé, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy ; McInnes, L. Alison ; McGrew, Susan G ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann S ; Kolevzon, Alexander ; Jiménez González, Patricia ; Jacob, Suma ; Holt, Richard ; Guter, Stephen ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J ; Almeida, Joana ; Wijsman, Ellen M ; Vicente, Astrid M ; Schellenberg, Gerard D ; Pericak-Vance, Margaret ; Paterson, Andrew D ; Parr, Jeremy R ; Oliveira, Guiomar ; Nurnberger, John I ; Monaco, Anthony P ; Maestrini, Elena ; Klauck, Sabine M ; Hakonarson, Hakon ; Haines, Jonathan L ; Geschwind, Daniel H ; Freitag, Christine M ; Folstein, Susan E ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H ; Buxbaum, Joseph D ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W
facets
frbrtype5
frbrgroupidcdi_FETCH-LOGICAL-11071t-7fd25d94f3b765c11fc7da4dc67ac1b510ba8e874a16e3b3a0f5a7a082be25913
rsrctypearticles
prefilterarticles
languageeng
creationdate2014
topic
0Article
1Autism
2Child
3Child Development Disorders, Pervasive - genetics
4Chromatin
5Copy Number Variation
6de novo
7DNA Copy Number Variations
8Female
9gene networks
10Gene Regulatory Networks
11Genes
12Genetic aspects
13Genetic code
14Genetic research
15Genetic variation
16Genetics
17Genetics(clinical)
18Humans
19inherited
20Learning disabilities
21Life Sciences
22Male
23Medicin och hälsovetenskap
24mental disorders
25Metabolic Networks and Pathways - genetics
26Multigene Family
27Neurological disorders
28pathways
29Pedigree
30Proteins
31Psychiatry
32Psykiatri
33rare CNV
34Sequence Deletion
toplevel
0peer_reviewed
1online_resources
creatorcontrib
0Pinto, Dalila
1Delaby, Elsa
2Merico, Daniele
3Barbosa, Mafalda
4Merikangas, Alison
5Klei, Lambertus
6Thiruvahindrapuram, Bhooma
7Xu, Xiao
8Ziman, Robert
9Vorstman, Jacob A.S
10Thompson, Ann
11Regan, Regina
12Pilorge, Marion
13Pellecchia, Giovanna
14Pagnamenta, Alistair T
15Oliveira, Bárbara
16Marshall, Christian R
17Magalhaes, Tiago R
18Lowe, Jennifer K
19Gilbert, John
20Duketis, Eftichia
21De Jonge, Maretha V
22Cuccaro, Michael
23Crawford, Emily L
24Correia, Catarina T
25Conroy, Judith
26Conceição, Inês C
27Chiocchetti, Andreas G
28Casey, Jillian P
29Cai, Guiqing
30Cabrol, Christelle
31Bacchelli, Elena
32Gallinger, Steven
33Cotterchio, Michelle
34Zwaigenbaum, Lonnie
35Wittemeyer, Kerstin
36Wing, Kirsty
37van Engeland, Herman
38Tryfon, Ana
39Thomson, Susanne
40Rogé, Bernadette
41Roberts, Wendy
42Poustka, Fritz
43Mouga, Susana
44Minshew, Nancy
45McInnes, L. Alison
46McGrew, Susan G
47Lord, Catherine
48Leboyer, Marion
49Le Couteur, Ann S
50Kolevzon, Alexander
51Jiménez González, Patricia
52Jacob, Suma
53Holt, Richard
54Guter, Stephen
55Green, Jonathan
56Green, Andrew
57Gillberg, Christopher
58Fernandez, Bridget A
59Duque, Frederico
60Delorme, Richard
61Dawson, Geraldine
62Chaste, Pauline
63Café, Cátia
64Brennan, Sean
65Bourgeron, Thomas
66Bolton, Patrick F
67Bernier, Raphael
68Baird, Gillian
69Bailey, Anthony J
70Almeida, Joana
71Wijsman, Ellen M
72Vicente, Astrid M
73Schellenberg, Gerard D
74Pericak-Vance, Margaret
75Paterson, Andrew D
76Parr, Jeremy R
77Oliveira, Guiomar
78Nurnberger, John I
79Monaco, Anthony P
80Maestrini, Elena
81Klauck, Sabine M
82Hakonarson, Hakon
83Haines, Jonathan L
84Geschwind, Daniel H
85Freitag, Christine M
86Folstein, Susan E
87Ennis, Sean
88Coon, Hilary
89Battaglia, Agatino
90Szatmari, Peter
91Sutcliffe, James S
92Hallmayer, Joachim
93Gill, Michael
94Cook, Edwin H
95Buxbaum, Joseph D
96Devlin, Bernie
97Gallagher, Louise
98Betancur, Catalina
99Scherer, Stephen W
100Gillberg Neuropsychiatry Centre
101Sahlgrenska akademin
102Göteborgs universitet
103Gothenburg University
104Gillbergcentrum
105Sahlgrenska Academy
collection
0ScienceDirect Open Access Titles
1Elsevier:ScienceDirect:Open Access
2Medline
3MEDLINE
4MEDLINE (Ovid)
5MEDLINE
6MEDLINE
7PubMed
8CrossRef
9Calcium & Calcified Tissue Abstracts
10Neurosciences Abstracts
11Nucleic Acids Abstracts
12Toxicology Abstracts
13Technology Research Database
14Environmental Sciences and Pollution Management
15Engineering Research Database
16ProQuest Health & Medical Complete (Alumni)
17Biotechnology and BioEngineering Abstracts
18Genetics Abstracts
19Hyper Article en Ligne (HAL)
20Hyper Article en Ligne (HAL) (Open Access)
21OpenAIRE (Open Access)
22OpenAIRE
23PubMed Central (Full Participant titles)
24SwePub
25SwePub Articles
26SWEPUB Freely available online
jtitleAmerican journal of human genetics
delivery
delcategoryRemote Search Resource
fulltextfulltext
addata
au
0Pinto, Dalila
1Delaby, Elsa
2Merico, Daniele
3Barbosa, Mafalda
4Merikangas, Alison
5Klei, Lambertus
6Thiruvahindrapuram, Bhooma
7Xu, Xiao
8Ziman, Robert
9Vorstman, Jacob A.S
10Thompson, Ann
11Regan, Regina
12Pilorge, Marion
13Pellecchia, Giovanna
14Pagnamenta, Alistair T
15Oliveira, Bárbara
16Marshall, Christian R
17Magalhaes, Tiago R
18Lowe, Jennifer K
19Gilbert, John
20Duketis, Eftichia
21De Jonge, Maretha V
22Cuccaro, Michael
23Crawford, Emily L
24Correia, Catarina T
25Conroy, Judith
26Conceição, Inês C
27Chiocchetti, Andreas G
28Casey, Jillian P
29Cai, Guiqing
30Cabrol, Christelle
31Bacchelli, Elena
32Gallinger, Steven
33Cotterchio, Michelle
34Zwaigenbaum, Lonnie
35Wittemeyer, Kerstin
36Wing, Kirsty
37van Engeland, Herman
38Tryfon, Ana
39Thomson, Susanne
40Rogé, Bernadette
41Roberts, Wendy
42Poustka, Fritz
43Mouga, Susana
44Minshew, Nancy
45McInnes, L. Alison
46McGrew, Susan G
47Lord, Catherine
48Leboyer, Marion
49Le Couteur, Ann S
50Kolevzon, Alexander
51Jiménez González, Patricia
52Jacob, Suma
53Holt, Richard
54Guter, Stephen
55Green, Jonathan
56Green, Andrew
57Gillberg, Christopher
58Fernandez, Bridget A
59Duque, Frederico
60Delorme, Richard
61Dawson, Geraldine
62Chaste, Pauline
63Café, Cátia
64Brennan, Sean
65Bourgeron, Thomas
66Bolton, Patrick F
67Bernier, Raphael
68Baird, Gillian
69Bailey, Anthony J
70Almeida, Joana
71Wijsman, Ellen M
72Vicente, Astrid M
73Schellenberg, Gerard D
74Pericak-Vance, Margaret
75Paterson, Andrew D
76Parr, Jeremy R
77Oliveira, Guiomar
78Nurnberger, John I
79Monaco, Anthony P
80Maestrini, Elena
81Klauck, Sabine M
82Hakonarson, Hakon
83Haines, Jonathan L
84Geschwind, Daniel H
85Freitag, Christine M
86Folstein, Susan E
87Ennis, Sean
88Coon, Hilary
89Battaglia, Agatino
90Szatmari, Peter
91Sutcliffe, James S
92Hallmayer, Joachim
93Gill, Michael
94Cook, Edwin H
95Buxbaum, Joseph D
96Devlin, Bernie
97Gallagher, Louise
98Betancur, Catalina
99Scherer, Stephen W
aucorp
0Gillberg Neuropsychiatry Centre
1Sahlgrenska akademin
2Göteborgs universitet
3Gothenburg University
4Gillbergcentrum
5Sahlgrenska Academy
formatjournal
genrearticle
ristypeJOUR
atitleConvergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
jtitleAmerican journal of human genetics
addtitleAm J Hum Genet
date2014-05-01
risdate2014
volume94
issue5
spage677
epage694
pages677-694
issn
00002-9297
11537-6605
eissn1537-6605
notes
0These authors contributed equally to this work
1Present address: International Laboratory for Brain, Music, and Sound Research, University of Montreal and McGill University, Montreal, QC H3C 3J7, Canada
2Present address: Department of Psychiatry, Kaiser Permanente, San Francisco, CA 94118, USA
3Present address: Department of Women’s and Children’s Health, Center of Neurodevelopmental Disorders, Karolinska Institutet, 11330 Stockholm, Sweden
4Present address: Department of Psychiatry, Rush University Medical Center, Chicago, IL 60612, USA
5Present address: Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 2A1, Canada
abstractRare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10−15, ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
copUnited States
pubElsevier Inc
pmid24768552
doi10.1016/j.ajhg.2014.03.018
orcididhttps://orcid.org/0000-0002-3327-4804
oafree_for_read