Autism Spectrum Disorders: What do we learn from genetics?

被引：0

作者：

Delorme, Richard ^{[1
,2
]}

Mouren, Marie-Christine ^{[1
]}

机构：

[1] Hop Robert Debre, Serv Pedopsychiat, F-75019 Paris, France

[2] Inst Pasteur, CNRS URA2182, Paris, France

来源：

ANNALES MEDICO-PSYCHOLOGIQUES | 2012年 / 170卷 / 07期

关键词：

Autism; Gene; Mutations; Phenotype; MUTATIONS; NEUROLIGINS; REVEALS; LINKAGE; NLGN4; SCAN; RISK; LOCI;

D O I：

10.1016/j.amp.2012.07.001

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Autism spectrum disorders (ASD) are a heterogeneous group of pervasive neurodevelopmental disorders affecting 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. It is now understood that autism symptoms can be caused either by gene mutations or by chromosomal aberrations. In the last years, various independent studies and large-scale international efforts have identified rare variants, copy number variants (CNVs) and single nucleotide variants (SNVs) associated with ASD and suggested a set of mechanisms that could underlie the ASD phenotype. In this review, we present the main rare variants associated with ASD as well as early findings on the identification of common variants as risk factors. A better characterization of the genetic and phenotypic heterogeneity of ASD will help to understand the epistasis between the rare and common variants. (C) 2012 Published by Elsevier Masson SAS.

引用

页码：476 / 478

页数：3

共 20 条

[1] A genome-wide scan for common alleles affecting risk for autism [J].

Anney, Richard ;

Klei, Lambertus ;

Pinto, Dalila ;

Regan, Regina ;

Conroy, Judith ;

Magalhaes, Tiago R. ;

Correia, Catarina ;

Abrahams, Brett S. ;

Sykes, Nuala ;

Pagnamenta, Alistair T. ;

Almeida, Joana ;

Bacchelli, Elena ;

Bailey, Anthony J. ;

Baird, Gillian ;

Battaglia, Agatino ;

Berney, Tom ;

Bolshakova, Nadia ;

Boelte, Sven ;

Bolton, Patrick F. ;

Bourgeron, Thomas ;

Brennan, Sean ;

Brian, Jessica ;

Carson, Andrew R. ;

Casallo, Guillermo ;

Casey, Jillian ;

Chu, Su H. ;

Cochrane, Lynne ;

Corsello, Christina ;

Crawford, Emily L. ;

Crossett, Andrew ;

Dawson, Geraldine ;

de Jonge, Maretha ;

Delorme, Richard ;

Drmic, Irene ;

Duketis, Eftichia ;

Duque, Frederico ;

Estes, Annette ;

Farrar, Penny ;

Fernandez, Bridget A. ;

Folstein, Susan E. ;

Fombonne, Eric ;

Freitag, Christine M. ;

Gilbert, John ;

Gillberg, Christopher ;

Glessner, Joseph T. ;

Goldberg, Jeremy ;

Green, Jonathan ;

Guter, Stephen J. ;

Hakonarson, Hakon ;

Heron, Elizabeth A. .

HUMAN MOLECULAR GENETICS, 2010, 19 (20) :4072-4082

[2] AUTISM AS A STRONGLY GENETIC DISORDER - EVIDENCE FROM A BRITISH TWIN STUDY [J].

BAILEY, A ;

LECOUTEUR, A ;

GOTTESMAN, I ;

BOLTON, P ;

SIMONOFF, E ;

YUZDA, E ;

RUTTER, M .

PSYCHOLOGICAL MEDICINE, 1995, 25 (01) :63-77

[3] Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation [J].

Berkel, Simone ;

Marshall, Christian R. ;

Weiss, Birgit ;

Howe, Jennifer ;

Roeth, Ralph ;

Moog, Ute ;

Endris, Volker ;

Roberts, Wendy ;

Szatmari, Peter ;

Pinto, Dalila ;

Bonin, Michael ;

Riess, Angelika ;

Engels, Hartmut ;

Sprengel, Rolf ;

Scherer, Stephen W. ;

Rappold, Gudrun A. .

NATURE GENETICS, 2010, 42 (06) :489-491

[4] Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes [J].

Bucan, Maja ;

Abrahams, Brett S. ;

Wang, Kai ;

Glessner, Joseph T. ;

Herman, Edward I. ;

Sonnenblick, Lisa I. ;

Retuerto, Ana I. Alvarez ;

Imielinski, Marcin ;

Hadley, Dexter ;

Bradfield, Jonathan P. ;

Kim, Cecilia ;

Gidaya, Nicole B. ;

Lindquist, Ingrid ;

Hutman, Ted ;

Sigman, Marian ;

Kustanovich, Vlad ;

Lajonchere, Clara M. ;

Singleton, Andrew ;

Kim, Junhyong ;

Wassink, Thomas H. ;

McMahon, William M. ;

Owley, Thomas ;

Sweeney, John A. ;

Coon, Hilary ;

Nurnberger, John I., Jr. ;

Li, Mingyao ;

Cantor, Rita M. ;

Minshew, Nancy J. ;

Sutcliffe, James S. ;

Cook, Edwin H. ;

Dawson, Geraldine ;

Buxbaum, Joseph D. ;

Grant, Struan F. A. ;

Schellenberg, Gerard D. ;

Geschwind, Daniel H. ;

Hakonarson, Hakon .

PLOS GENETICS, 2009, 5 (06)

[5] Dissection of synapse induction by neuroligins -: Effect of a neuroligin mutation associated with autism [J].

Chubykin, AA ;

Liu, XR ;

Comoletti, D ;

Tsigelny, I ;

Taylor, P ;

Südhof, TC .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (23) :22365-22374

[6] Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders [J].

Durand, Christelle M. ;

Betancur, Catalina ;

Boeckers, Tobias M. ;

Bockmann, Juergen ;

Chaste, Pauline ;

Fauchereau, Fabien ;

Nygren, Gudrun ;

Rastam, Maria ;

Gillberg, I. Carina ;

Anckarsater, Henrik ;

Sponheim, Eili ;

Goubran-Botros, Hany ;

Delorme, Richard ;

Chabane, Nadia ;

Mouren-Simeoni, Marie-Christine ;

de Mas, Philippe ;

Bieth, Eric ;

Roge, Bernadette ;

Heron, Delphine ;

Burglen, Lydie ;

Gillberg, Christopher ;

Leboyer, Marion ;

Bourgeron, Thomas .

NATURE GENETICS, 2007, 39 (01) :25-27

[7] Autism and associated medical disorders in a French epidemiological survey [J].

Fombonne, E ;

DuMazaubrun, C ;

Cans, C ;

Grandjean, H .

JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 1997, 36 (11) :1561-1569

[8] Autism genome-wide copy number variation reveals ubiquitin and neuronal genes [J].

Glessner, Joseph T. ;

Wang, Kai ;

Cai, Guiqing ;

Korvatska, Olena ;

Kim, Cecilia E. ;

Wood, Shawn ;

Zhang, Haitao ;

Estes, Annette ;

Brune, Camille W. ;

Bradfield, Jonathan P. ;

Imielinski, Marcin ;

Frackelton, Edward C. ;

Reichert, Jennifer ;

Crawford, Emily L. ;

Munson, Jeffrey ;

Sleiman, Patrick M. A. ;

Chiavacci, Rosetta ;

Annaiah, Kiran ;

Thomas, Kelly ;

Hou, Cuiping ;

Glaberson, Wendy ;

Flory, James ;

Otieno, Frederick ;

Garris, Maria ;

Soorya, Latha ;

Klei, Lambertus ;

Piven, Joseph ;

Meyer, Kacie J. ;

Anagnostou, Evdokia ;

Sakurai, Takeshi ;

Game, Rachel M. ;

Rudd, Danielle S. ;

Zurawiecki, Danielle ;

McDougle, Christopher J. ;

Davis, Lea K. ;

Miller, Judith ;

Posey, David J. ;

Michaels, Shana ;

Kolevzon, Alexander ;

Silverman, Jeremy M. ;

Bernier, Raphael ;

Levy, Susan E. ;

Schultz, Robert T. ;

Dawson, Geraldine ;

Owley, Thomas ;

McMahon, William M. ;

Wassink, Thomas H. ;

Sweeney, John A. ;

Nurnberger, John I., Jr. ;

Coon, Hilary .

NATURE, 2009, 459 (7246) :569-573

[9] The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 [J].

Hogart, Amber ;

Wu, David ;

LaSalle, Janine M. ;

Schanen, N. Carolyn .

NEUROBIOLOGY OF DISEASE, 2010, 38 (02) :181-191

[10] Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism [J].

Jamain, S ;

Quach, H ;

Betancur, C ;

Råstam, M ;

Colineaux, C ;

Gillberg, IC ;

Soderstrom, H ;

Giros, B ;

Leboyer, M ;

Gillberg, C ;

Bourgeron, T ;

Gillberg, C ;

Råstam, M ;

Gillberg, C ;

Nydén, A ;

Söderström, H ;

Leboyer, M ;

Betancur, C ;

Philippe, A ;

Giros, B ;

Colineaux, C ;

Cohen, D ;

Chabane, N ;

Mouren-Siméoni, MC ;

Brice, A ;

Sponheim, E ;

Spurkland, I ;

Skjeldal, OH ;

Coleman, M ;

Pearl, PL ;

Cohen, IL ;

Tsiouris, J ;

Zappella, M ;

Menchetti, G ;

Pompella, A ;

Aschauer, H ;

Van Maldergem, L .

NATURE GENETICS, 2003, 34 (01) :27-29

← 1 2 →