Genetics of Autism Spectrum Disorder: An Update

被引：4
作者：
Malik, Salma [1 ]
Khan, Yasser Saeed [2 ]
Sahl, Robert [3 ]
Elzamzamy, Khalid [4 ]
Nazeer, Ahsan [1 ]
机构：
[1] Sidra Med, Child & Adolescent Psychiat Div, Doha, Qatar
[2] Hamad Med Corp, Child & Adolescent Mental Hlth Serv, Doha, Qatar
[3] Hartford Healthcare, Inst Living, Hartford, CT USA
[4] Hamad Med Corp, Doha, Qatar
来源：
PSYCHIATRIC ANNALS | 2019年 / 49卷 / 03期
关键词：
DEVELOPMENTAL-DISABILITIES; MUTATIONS; CHILDREN; RISK; TWIN;
D O I：
10.3928/00485713-20190212-01
中图分类号：
R749 [精神病学];
学科分类号：
100205 ;
摘要：
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by a heterogeneous constellation of deficits in social communication and reciprocity along with restrictive, repetitive patterns of behavior. ASD is among the most heritable mental disorders with twin concordance rates ranging between 77% and 95% among monozygotic twins. Advances have been made in understanding the neurobiological mechanisms and genetic underpinnings of ASD. Over the past decades, studies have identified a role for both common and rare genetic variations contributing to autism. In this article, we review the genetics of ASD and highlight findings in the field.
引用
收藏
页码：109 / 114
页数：6
相关论文
共 37 条
  • [1] Maternal Infection Requiring Hospitalization During Pregnancy and Autism Spectrum Disorders
    Atladottir, Hjordis O.
    Thorsen, Poul
    Ostergaard, Lars
    Schendel, Diana E.
    Lemcke, Sanne
    Abdallah, Morsi
    Parner, Erik T.
    [J]. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2010, 40 (12) : 1423 - 1430
  • [2] AUTISM AS A STRONGLY GENETIC DISORDER - EVIDENCE FROM A BRITISH TWIN STUDY
    BAILEY, A
    LECOUTEUR, A
    GOTTESMAN, I
    BOLTON, P
    SIMONOFF, E
    YUZDA, E
    RUTTER, M
    [J]. PSYCHOLOGICAL MEDICINE, 1995, 25 (01) : 63 - 77
  • [3] Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014
    Baio, Jon
    Wiggins, Lisa
    Christensen, Deborah L.
    Maenner, Matthew J.
    Daniels, Julie
    Warren, Zachary
    Kurzius-Spencer, Margaret
    Zahorodny, Walter
    Rosenberg, Cordelia Robinson
    White, Tiffany
    Durkin, Maureen S.
    Imm, Pamela
    Nikolaou, Loizos
    Yeargin-Allsopp, Marshalyn
    Lee, Li-Ching
    Harrington, Rebecca
    Lopez, Maya
    Fitzgerald, Robert T.
    Hewitt, Amy
    Pettygrove, Sydney
    Constantino, John N.
    Vehorn, Alison
    Shenouda, Josephine
    Hall-Lande, Jennifer
    Braun, Kim Van Naarden
    Dowling, Nicole F.
    [J]. MMWR SURVEILLANCE SUMMARIES, 2018, 67 (06): : 1 - 23
  • [4] Baron-Cohen S, 2006, ARCH DIS CHILD, V91, P2
  • [5] Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    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.
    [J]. NATURE GENETICS, 2010, 42 (06) : 489 - 491
  • [6] Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
    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.
    [J]. CELL, 2014, 158 (02) : 263 - 276
  • [7] Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    Betancur, Catalina
    [J]. BRAIN RESEARCH, 2011, 1380 : 42 - 77
  • [8] Current knowledge on the genetics of autism and propositions for future research
    Bourgeron, Thomas
    [J]. COMPTES RENDUS BIOLOGIES, 2016, 339 (7-8) : 300 - 307
  • [9] From the genetic architecture to synaptic plasticity in autism spectrum disorder
    Bourgeron, Thomas
    [J]. NATURE REVIEWS NEUROSCIENCE, 2015, 16 (09) : 551 - 563
  • [10] Carter MJ, 2014, THER RECREAT J, V48, P275
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