Autism spectrum disorder in the genetics clinic: a review

被引：129

作者：

Carter, M. T. ^{[1
]}

Scherer, S. W. ^{[2
,3
,4
,5
]}

机构：

[1] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[3] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[4] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada

[5] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

来源：

CLINICAL GENETICS | 2013年 / 83卷 / 05期

关键词：

autism spectrum disorder copy; number variant; diagnosis genetic; testing; microarray; synapse; UTAH EPIDEMIOLOGIC SURVEY; COPY NUMBER VARIATION; FRAGILE-X-SYNDROME; DE-NOVO MUTATIONS; DELETION SYNDROME; RECURRENCE RISK; CODING SEQUENCE; MECP2; MUTATIONS; PROXIMAL; 15Q; PTEN GENE;

D O I：

10.1111/cge.12101

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet 2013: 83: 399-407. (C) John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2013 Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recognizable genetic syndromes with readily available molecular diagnosis, such as fragile X syndrome. Clinical geneticists approach patients with ASDs by ruling out known genetic and genomic syndromes, leaving more than 80% of families without a definitive diagnosis and an uncertain risk of recurrence. Advances in microarray technology and next-generation sequencing are revealing rare variants in genes with important roles in synapse formation, function and maintenance. This review will focus on the clinical approach to ASDs, given the current state of knowledge about their complex genetic architecture.

引用

页码：399 / 407

页数：9

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