Genetics and genomics of autism spectrum disorder: embracing complexity

被引：141

作者：

De Rubeis, Silvia ^{[1
,2
]}

Buxbaum, Joseph D. ^{[1
,2
,3
,4
,5
,6
]}

机构：

[1] Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA

[3] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[4] Icahn Sch Med Mt Sinai, Dept Neurosci, New York, NY 10029 USA

[5] Icahn Sch Med Mt Sinai, Friedman Brain Inst, New York, NY 10029 USA

[6] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA

来源：

HUMAN MOLECULAR GENETICS | 2015年 / 24卷

关键词：

DEPENDENT NEUROPROTECTIVE PROTEIN; DE-NOVO MUTATIONS; COPY-NUMBER VARIATION; INTELLECTUAL DISABILITY; POSTMITOTIC NEURONS; PROJECTION NEURONS; WIDE ASSOCIATION; PATERNAL ORIGIN; ANKYRIN-B; RISK;

D O I：

10.1093/hmg/ddv273

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by impairments in social communication and social interaction and the presence of repetitive behaviors and/or restricted interests. ASD has profound etiological and clinical heterogeneity, which has impeded the identification of risk factors and pathophysiological processes underlying the disorder. A constellation of (i) types of genetic variation, (ii) modes of inheritance and (iii) specific genomic loci and genes have all recently been implicated in ASD risk, and these findings are currently being extended with functional analyses in model organisms and genotype-phenotype correlation studies. The overlap of risk loci between ASD and other NDDs raises intriguing questions around the mechanisms of risk. In this review, we will touch upon these aspects of ASD and how they might be addressed.

引用

页码：R24 / R31

页数：8

共 105 条

[1] Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder [J].

Aldinger, Kimberly A. ;

Lane, Christianne J. ;

Veenstra-VanderWeele, Jeremy ;

Levitt, Pat .

AUTISM RESEARCH, 2015, 8 (06) :771-781

[2] De novo mutations in epileptic encephalopathies [J].

Allen, Andrew S. ;

Berkovic, Samuel F. ;

Cossette, Patrick ;

Delanty, Norman ;

Dlugos, Dennis ;

Eichler, Evan E. ;

Epstein, Michael P. ;

Glauser, Tracy ;

Goldstein, David B. ;

Han, Yujun ;

Heinzen, Erin L. ;

Hitomi, Yuki ;

Howell, Katherine B. ;

Johnson, Michael R. ;

Kuzniecky, Ruben ;

Lowenstein, Daniel H. ;

Lu, Yi-Fan ;

Madou, Maura R. Z. ;

Marson, Anthony G. ;

Mefford, Heather C. ;

Nieh, Sahar Esmaeeli ;

O'Brien, Terence J. ;

Ottman, Ruth ;

Petrovski, Slave ;

Poduri, Annapurna ;

Ruzzo, Elizabeth K. ;

Scheffer, Ingrid E. ;

Sherr, Elliott H. ;

Yuskaitis, Christopher J. ;

Abou-Khalil, Bassel ;

Alldredge, Brian K. ;

Bautista, Jocelyn F. ;

Berkovic, Samuel F. ;

Boro, Alex ;

Cascino, Gregory D. ;

Consalvo, Damian ;

Crumrine, Patricia ;

Devinsky, Orrin ;

Dlugos, Dennis ;

Epstein, Michael P. ;

Fiol, Miguel ;

Fountain, Nathan B. ;

French, Jacqueline ;

Friedman, Daniel ;

Geller, Eric B. ;

Glauser, Tracy ;

Glynn, Simon ;

Haut, Sheryl R. ;

Hayward, Jean ;

Helmers, Sandra L. .

NATURE, 2013, 501 (7466) :217-+

[3] Individual common variants exert weak effects on the risk for autism spectrum disorderspi [J].

Anney, Richard ;

Klei, Lambertus ;

Pinto, Dalila ;

Almeida, Joana ;

Bacchelli, Elena ;

Baird, Gillian ;

Bolshakova, Nadia ;

Boelte, Sven ;

Bolton, Patrick F. ;

Bourgeron, Thomas ;

Brennan, Sean ;

Brian, Jessica ;

Casey, Jillian ;

Conroy, Judith ;

Correia, Catarina ;

Corsello, Christina ;

Crawford, Emily L. ;

de Jonge, Maretha ;

Delorme, Richard ;

Duketis, Eftichia ;

Duque, Frederico ;

Estes, Annette ;

Farrar, Penny ;

Fernandez, Bridget A. ;

Folstein, Susan E. ;

Fombonne, Eric ;

Gilbert, John ;

Gillberg, Christopher ;

Glessner, Joseph T. ;

Green, Andrew ;

Green, Jonathan ;

Guter, Stephen J. ;

Heron, Elizabeth A. ;

Holt, Richard ;

Howe, Jennifer L. ;

Hughes, Gillian ;

Hus, Vanessa ;

Igliozzi, Roberta ;

Jacob, Suma ;

Kenny, Graham P. ;

Kim, Cecilia ;

Kolevzon, Alexander ;

Kustanovich, Vlad ;

Lajonchere, Clara M. ;

Lamb, Janine A. ;

Law-Smith, Miriam ;

Leboyer, Marion ;

Le Couteur, Ann ;

Leventhal, Bennett L. ;

Liu, Xiao-Qing .

HUMAN MOLECULAR GENETICS, 2012, 21 (21) :4781-4792

[4] 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

[5] 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

[6] Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome [J].

Bassett, Anne S. ;

McDonald-McGinn, Donna M. ;

Devriendt, Koen ;

Digilio, Maria Cristina ;

Goldenberg, Paula ;

Habel, Alex ;

Marino, Bruno ;

Oskarsdottir, Solveig ;

Philip, Nicole ;

Sullivan, Kathleen ;

Swillen, Ann ;

Vorstman, Jacob .

JOURNAL OF PEDIATRICS, 2011, 159 (02) :332-U213

[7] Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex [J].

Bedogni, Francesco ;

Hodge, Rebecca D. ;

Elsen, Gina E. ;

Nelson, Branden R. ;

Daza, Ray A. M. ;

Beyer, Richard P. ;

Bammler, Theo K. ;

Rubenstein, John L. R. ;

Hevner, Robert F. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (29) :13129-13134

[8] Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development [J].

Bernier, Raphael ;

Golzio, Christelle ;

Xiong, Bo ;

Stessman, Holly A. ;

Coe, Bradley P. ;

Penn, Osnat ;

Witherspoon, Kali ;

Gerdts, Jennifer ;

Baker, Carl ;

Vulto-van Silfhout, Anneke T. ;

Schuurs-Hoeijmakers, Janneke H. ;

Fichera, Marco ;

Bosco, Paolo ;

Buono, Serafino ;

Alberti, Antonino ;

Failla, Pinella ;

Peeters, Hilde ;

Steyaert, Jean ;

Vissers, Lisenka E. L. M. ;

Francescatto, Ludmila ;

Mefford, Heather C. ;

Rosenfeld, Jill A. ;

Bakken, Trygve ;

O'Roak, Brian J. ;

Pawlus, Matthew ;

Moon, Randall ;

Shendure, Jay ;

Amaral, David G. ;

Lein, Ed ;

Rankin, Julia ;

Romano, Corrado ;

de Vries, Bert B. A. ;

Katsanis, Nicholas ;

Eichler, Evan E. .

CELL, 2014, 158 (02) :263-276

[9] Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting [J].

Betancur, Catalina .

BRAIN RESEARCH, 2011, 1380 :42-77

[10] Subcategories of Restricted and Repetitive Behaviors in Children with Autism Spectrum Disorders [J].

Bishop, Somer L. ;

Hus, Vanessa ;

Duncan, Amie ;

Huerta, Marisela ;

Gotham, Katherine ;

Pickles, Andrew ;

Kreiger, Abba ;

Buja, Andreas ;

Lund, Sabata ;

Lord, Catherine .

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2013, 43 (06) :1287-1297

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