Autism genetics: opportunities and challenges for clinical translation

被引：310

作者：

Vorstman, Jacob A. S. ^{[1
]}

Parr, Jeremy R. ^{[2
]}

Moreno-De-Luca, Daniel ^{[3
]}

Anney, Richard J. L. ^{[4
]}

Nurnberger, John I., Jr. ^{[5
,6
]}

Hallmayer, Joachim F. ^{[7
]}

机构：

[1] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, Heidelberglaan 100, NL-3485 Utrecht, Netherlands

[2] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

[3] Brown Univ, Dept Psychiat & Human Behav, Div Child & Adolescent Psychiat, Providence, RI 02912 USA

[4] Cardiff Univ, Div Psychol Med & Clin Neurosci, Ctr Neuropsychiat Genet & Genom, MRC, Hadyn Ellis Bldg,Maindy Rd, Cardiff CF24 4HQ, Wales

[5] Indiana Univ Sch Med, Stark Neurosci Res Inst, Dept Psychiat, Indianapolis, IN 46202 USA

[6] Indiana Univ Sch Med, Dept Med & Mol Genet, 320 West 15th St, Indianapolis, IN 46202 USA

[7] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, 401 Quarry Road, Stanford, CA 94305 USA

来源：

NATURE REVIEWS GENETICS | 2017年 / 18卷 / 06期

基金：

英国医学研究理事会;

关键词：

DE-NOVO MUTATIONS; LESCH-NYHAN-DISEASE; COPY-NUMBER VARIANT; INDUCED WEIGHT-GAIN; FRAGILE-X-SYNDROME; SPECTRUM DISORDERS; INTELLECTUAL DISABILITY; DELETION SYNDROME; NEUROPSYCHIATRIC DISORDERS; CHROMOSOMAL MICROARRAY;

D O I：

10.1038/nrg.2017.4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.

引用

页码：362 / 376

页数：15

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