New Genetic Approaches for Early Diagnosis and Treatment of Autism Spectrum Disorders

被引：1

作者：

Alagoz, Meryem ^{[1
]}

Kherad, Nasim ^{[1
]}

Gavaz, Meral ^{[1
]}

Yuksel, Adnan ^{[1
]}

机构：

[1] Biruni Univ, Genome Ctr, Dept Mol Biol & Genet, Protokol Yolu 45,10 Yil Cd Zeytinburnu, Istanbul, Turkey

来源：

REVIEW JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2019年 / 6卷 / 04期

关键词：

Autism spectrum disorders; Next generation sequencing; Early diagnosis and treatment; New genetic approaches; FOLIC-ACID SUPPLEMENTS; COPY-NUMBER VARIATION; MOUSE MODEL; MENTAL-RETARDATION; GENOME-WIDE; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY; KDM5C/JARID1C GENE; SHORT STATURE; PARENTAL AGE;

D O I：

10.1007/s40489-019-00167-w

中图分类号：

B844 [发展心理学（人类心理学）];

学科分类号：

040202 ;

摘要：

Autism spectrum disorders (ASD) are common heterogeneous neurodevelopmental disorders, characterized by disruptions in social interactions, communication, and limitations in behavior. Early diagnosis is an important step to prevent progression of ASD. Recent developments in genetic technology provide useful tools to investigate the molecular mechanisms involved in autism. Despite a number of noteworthy studies, there is not yet enough understanding of the genetic etiology of ASD. Research should focus on multidisciplinary approaches to improve early diagnosis and intervention of autism. It is important to study the combinatorial effects of genetic, epigenetic, and environmental factors. This review focuses on current research in ASD, highlighting the importance of identifying new approaches, such as next generation sequencing (NGS) and microRNA (miRNA) technologies, to introduce possible ways for developing new biomarkers and drugs.

引用

页码：367 / 380

页数：14

共 131 条

[1] Amniotic fluid inflammatory cytokines: Potential markers of immunologic dysfunction in autism spectrum disorders [J].

Abdallah, Morsi W. ;

Larsen, Nanna ;

Grove, Jakob ;

Norgaard-Pedersen, Bent ;

Thorsen, Poul ;

Mortensen, Erik L. ;

Hougaard, David M. .

WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY, 2013, 14 (07) :528-538

[2] Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia [J].

Abidi, F. E. ;

Holloway, L. ;

Moore, C. A. ;

Weaver, D. D. ;

Simensen, R. J. ;

Stevenson, R. E. ;

Rogers, R. C. ;

Schwartz, C. E. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (12) :787-793

[3] Advances in autism genetics: on the threshold of a new neurobiology [J].

Abrahams, Brett S. ;

Geschwind, Daniel H. .

NATURE REVIEWS GENETICS, 2008, 9 (05) :341-355

[4] A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD) [J].

Adegbola, Abidemi ;

Gao, Hanlin ;

Sommer, Steve ;

Browning, Marsha .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (04) :505-511

[5] Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients [J].

Ahn, Joo Wook ;

Bint, Susan ;

Bergbaum, Anne ;

Mann, Kathy ;

Hall, Richard P. ;

Ogilvie, Caroline Mackie .

MOLECULAR CYTOGENETICS, 2013, 6

[6] Glia: an emerging target for neurological disease therapy [J].

Almad, Akshata A. ;

Maragakis, Nicholas J. .

STEM CELL RESEARCH & THERAPY, 2012, 3

[7] Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation [J].

Alter, Mark D. ;

Kharkar, Rutwik ;

Ramsey, Keri E. ;

Craig, David W. ;

Melmed, Raun D. ;

Grebe, Theresa A. ;

Bay, R. Curtis ;

Ober-Reynolds, Sharman ;

Kirwan, Janet ;

Jones, Josh J. ;

Turner, J. Blake ;

Hen, Rene ;

Stephan, Dietrich A. .

PLOS ONE, 2011, 6 (02)

[8] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].

Amir, RE ;

Van den Veyver, IB ;

Wan, M ;

Tran, CQ ;

Francke, U ;

Zoghbi, HY .

NATURE GENETICS, 1999, 23 (02) :185-188

[9] 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

[10]

[Anonymous], J AM ACAD CHILD ADOL

← 1 2 3 4 5 6 7 8 9 10 →