Genetics of autistic disorders: review and clinical implications

被引：128

作者：

Freitag, Christine M. ^{[1
]}

Staal, Wouter ^{[2
]}

Klauck, Sabine M. ^{[3
]}

Duketis, Eftichia ^{[1
]}

Waltes, Regina ^{[1
]}

机构：

[1] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany

[2] UMC Utrecht, Dept Child & Adolescent Psychiat, Utrecht, Netherlands

[3] German Canc Res Ctr, Div Mol Genome Anal, Heidelberg, Germany

来源：

EUROPEAN CHILD & ADOLESCENT PSYCHIATRY | 2010年 / 19卷 / 03期

关键词：

Autistic disorder; Linkage; Whole genome association; Copy number variation; Mutation; PERVASIVE DEVELOPMENTAL DISORDERS; GENOME-WIDE ASSOCIATION; CHINESE HAN POPULATION; COPY NUMBER VARIANTS; FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; REELIN GENE; STRUCTURAL VARIATION; CHROMOSOMAL REARRANGEMENTS; SOCIAL-BEHAVIOR;

D O I：

10.1007/s00787-009-0076-x

中图分类号：

B844 [发展心理学（人类心理学）];

学科分类号：

040202 ;

摘要：

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.

引用

页码：169 / 178

页数：10

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