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
| Author: | Christine M. Freitag, Wouter Staal, Sabine M. Klauck, Eftichia Duketis, Regina Waltes |
|---|---|
| URN: | urn:nbn:de:hebis:30-65810 |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 01.12.2010 |
| Year of first Publication: | 2010 |
| Publishing Institution: | Univ.-Bibliothek Frankfurt am Main |
| Tag: | Autistic disorder ; Copy number variation ; Linkage ; Mutation; Whole genome association |
| Source: | European Child & Adolescent Psychiatry, 19(3): 169–178 ; DOI 10.1007/s00787-009-0076-x |
| HeBIS PPN: | 22921052X |
| Institutes: | Medizin |
| Dewey Decimal Classification: | 610 Medizin und Gesundheit |
| Sammlungen: | Universitätspublikationen |
| Note: | (c)The Author(s) 2009. This article is published with open access at Springerlink.com |
| Licence (German): |  Veröffentlichungsvertrag für Publikationen ohne Print on Demand |
