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Genetics of autistic disorders : review and clinical implications

  • Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy number variations in AD. An extensive literature search in the PubMed database was performed to obtain English published articles on genetic findings in autism. Results of linkage, (genome wide) association and cytogenetic studies are presented, and putative aetiopathological pathways are discussed. Implications of the different genetic findings for genetic counselling and genetic testing at present will be described. The article ends with a prospectus on future directions. Keywords: Autistic disorder , Linkage , Whole genome association , Copy number variation , Mutation

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Author:Christine M. FreitagORCiDGND, Wouter Staal, Sabine M. Klauck, Eftichia Duketis, Regina Waltes
URN:urn:nbn:de:hebis:30-65810
DOI:https://doi.org/10.1007/s00787-009-0076-x
ISSN:1435-165X
ISSN:1018-8827
Pubmed Id:https://pubmed.ncbi.nlm.nih.gov/19941018
Parent Title (English):European child & adolescent psychiatry
Publisher:Steinkopff ; Springer
Place of publication:Darmstadt ; Berlin ; Heidelberg
Document Type:Article
Language:English
Date of Publication (online):2010/12/01
Year of first Publication:2009
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2010/12/01
Tag:Autistic disorder; Copy number variation; Linkage; Mutation; Whole genome association
Volume:19
Issue:3
Page Number:10
First Page:169
Last Page:178
Note:
Open Access: This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited
Source:European Child & Adolescent Psychiatry, 19(3): 169–178 ; DOI 10.1007/s00787-009-0076-x
HeBIS-PPN:22921052X
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Sammlungen:Universitätspublikationen
Licence (English):License LogoCreative Commons - Namensnennung-Nicht kommerziell 4.0