Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsater; Gudrun Nygren; I. Carina Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemiere; David Skuse; Martin Poot; Richard Holt; Anthony P. Monaco; Irma Jarvela; 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; Francoise Devillard; Brigitte Assouline; Marie-Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M. Boeckers; Thomas Bourgeron

doi:10.1371/journal.pgen.1002521

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsater, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemiere, David SkuseMartin Poot, Richard Holt, Anthony P. Monaco, Irma Jarvela, 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, Francoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

Lääketieteellisen genetiikan ja perinnöllisyyslääketieteen osasto

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	PLoS Genetics
Vuosikerta	8
Numero	2
Sivut	e1002521
Sivumäärä	17
ISSN	1553-7390
DOI - pysyväislinkit	https://doi.org/10.1371/journal.pgen.1002521
Tila	Julkaistu - 2012
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3111 Biolääketieteet

Pääsy asiakirjaan

10.1371/journal.pgen.1002521

Genetic and Functional Analyses of SHANK2 MutationsLopullinen julkaistu versio, 1,04 MBLisenssi: CC BY

Siteeraa tätä

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., Anckarsater, H., Nygren, G., Gillberg, I. C., Melke, J., Toro, R., Regnault, B., Fauchereau, F., Mercati, O., Lemiere, N., ... Bourgeron, T. (2012). Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders. PLoS Genetics, 8(2), e1002521 . https://doi.org/10.1371/journal.pgen.1002521

@article{910e0bb90d444ae48d8b921e6bea6951,

title = "Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders",

keywords = "COPY-NUMBER VARIATION, SCAFFOLDING PROTEIN SHANK3, HIDDEN-MARKOV MODEL, SNP GENOTYPING DATA, DE-NOVO MUTATIONS, MENTAL-RETARDATION, POSTSYNAPTIC DENSITY, RECURRENT MICRODELETIONS, 15Q13.3 MICRODELETIONS, PSYCHIATRIC-DISORDERS, 3111 Biomedicine",

author = "Leblond, {Claire S.} and Jutta Heinrich and Richard Delorme and Christian Proepper and Catalina Betancur and Guillaume Huguet and Marina Konyukh and Pauline Chaste and Elodie Ey and Maria Rastam and Henrik Anckarsater and Gudrun Nygren and Gillberg, {I. Carina} and Jonas Melke and Roberto Toro and Beatrice Regnault and Fabien Fauchereau and Oriane Mercati and Nathalie Lemiere and David Skuse and Martin Poot and Richard Holt and Monaco, {Anthony P.} and Irma Jarvela and Katri Kantoj{\"a}rvi and Raija Vanhala and Sarah Curran and Collier, {David A.} and Patrick Bolton and Andreas Chiocchetti and Klauck, {Sabine M.} and Fritz Poustka and Freitag, {Christine M.} and Regina Waltes and Marnie Kopp and Eftichia Duketis and Elena Bacchelli and Fiorella Minopoli and Liliana Ruta and Agatino Battaglia and Luigi Mazzone and Elena Maestrini and Sequeira, {Ana F.} and Barbara Oliveira and Astrid Vicente and Guiomar Oliveira and Dalila Pinto and Scherer, {Stephen W.} and Diana Zelenika and Marc Delepine and Mark Lathrop and Dominique Bonneau and Vincent Guinchat and Francoise Devillard and Brigitte Assouline and Marie-Christine Mouren and Marion Leboyer and Christopher Gillberg and Boeckers, {Tobias M.} and Thomas Bourgeron",

year = "2012",

doi = "10.1371/journal.pgen.1002521",

language = "English",

volume = "8",

pages = "e1002521 ",

journal = "PLoS Genetics",

issn = "1553-7404",

publisher = "PUBLIC LIBRARY OF SCIENCE",

number = "2",

}

Leblond, CS, Heinrich, J, Delorme, R, Proepper, C, Betancur, C, Huguet, G, Konyukh, M, Chaste, P, Ey, E, Rastam, M, Anckarsater, H, Nygren, G, Gillberg, IC, Melke, J, Toro, R, Regnault, B, Fauchereau, F, Mercati, O, Lemiere, N, Skuse, D, Poot, M, Holt, R, Monaco, AP, Jarvela, I , Kantojärvi, K , Vanhala, R, Curran, S, Collier, DA, Bolton, P, Chiocchetti, A, Klauck, SM, Poustka, F, Freitag, CM, Waltes, R, Kopp, M, Duketis, E, Bacchelli, E, Minopoli, F, Ruta, L, Battaglia, A, Mazzone, L, Maestrini, E, Sequeira, AF, Oliveira, B, Vicente, A, Oliveira, G, Pinto, D, Scherer, SW, Zelenika, D, Delepine, M, Lathrop, M, Bonneau, D, Guinchat, V, Devillard, F, Assouline, B, Mouren, M-C, Leboyer, M, Gillberg, C, Boeckers, TM & Bourgeron, T 2012, 'Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders', PLoS Genetics, Vuosikerta 8, Nro 2, Sivut e1002521 . https://doi.org/10.1371/journal.pgen.1002521

TY - JOUR

T1 - Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

AU - Leblond, Claire S.

AU - Heinrich, Jutta

AU - Delorme, Richard

AU - Proepper, Christian

AU - Betancur, Catalina

AU - Huguet, Guillaume

AU - Konyukh, Marina

AU - Chaste, Pauline

AU - Ey, Elodie

AU - Rastam, Maria

AU - Anckarsater, Henrik

AU - Nygren, Gudrun

AU - Gillberg, I. Carina

AU - Melke, Jonas

AU - Toro, Roberto

AU - Regnault, Beatrice

AU - Fauchereau, Fabien

AU - Mercati, Oriane

AU - Lemiere, Nathalie

AU - Skuse, David

AU - Poot, Martin

AU - Holt, Richard

AU - Monaco, Anthony P.

AU - Jarvela, Irma

AU - Kantojärvi, Katri

AU - Vanhala, Raija

AU - Curran, Sarah

AU - Collier, David A.

AU - Bolton, Patrick

AU - Chiocchetti, Andreas

AU - Klauck, Sabine M.

AU - Poustka, Fritz

AU - Freitag, Christine M.

AU - Waltes, Regina

AU - Kopp, Marnie

AU - Duketis, Eftichia

AU - Bacchelli, Elena

AU - Minopoli, Fiorella

AU - Ruta, Liliana

AU - Battaglia, Agatino

AU - Mazzone, Luigi

AU - Maestrini, Elena

AU - Sequeira, Ana F.

AU - Oliveira, Barbara

AU - Vicente, Astrid

AU - Oliveira, Guiomar

AU - Pinto, Dalila

AU - Scherer, Stephen W.

AU - Zelenika, Diana

AU - Delepine, Marc

AU - Lathrop, Mark

AU - Bonneau, Dominique

AU - Guinchat, Vincent

AU - Devillard, Francoise

AU - Assouline, Brigitte

AU - Mouren, Marie-Christine

AU - Leboyer, Marion

AU - Gillberg, Christopher

AU - Boeckers, Tobias M.

AU - Bourgeron, Thomas

PY - 2012

Y1 - 2012

KW - COPY-NUMBER VARIATION

KW - SCAFFOLDING PROTEIN SHANK3

KW - HIDDEN-MARKOV MODEL

KW - SNP GENOTYPING DATA

KW - DE-NOVO MUTATIONS

KW - MENTAL-RETARDATION

KW - POSTSYNAPTIC DENSITY

KW - RECURRENT MICRODELETIONS

KW - 15Q13.3 MICRODELETIONS

KW - PSYCHIATRIC-DISORDERS

KW - 3111 Biomedicine

U2 - 10.1371/journal.pgen.1002521

DO - 10.1371/journal.pgen.1002521

M3 - Article

VL - 8

SP - e1002521

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7404

IS - 2

ER -