Genetics of autistic disorders: review and clinical implications

Christine M. Freitag (1) , Wouter Staal (2) , Sabine M. Klauck (3) , Eftichia Duketis (1) , Regina Waltes (1)

1 Department of Child and Adolescent Psychiatry, Psychosomatics, and Psychotherapy
2 Department of Child and Adolescent Psychiatry
3 Division of Molecular Genome Analysis

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.

Mots clés: Autistic disorder; Linkage; Whole genome association; Copy number variation; Mutation

Christine M. Freitag, Wouter Staal, Sabine M. Klauck, Eftichia Duketis, Regina Waltes. Genetics of autistic disorders: review and clinical implications. European Child and Adolescent Psychiatry, 2009, 19 (3), pp.169-178. ⟨10.1007/s00787-009-0076-x⟩. ⟨hal-00540027⟩