The Genetics of Autism Spectrum Disorders - A Guide for Clinicians

被引：40

作者：

Heil, Karsten M. ^{[1
]}

Schaaf, Christian P. ^{[2
]}

机构：

[1] Heidelberg Univ, Fac Med, D-69120 Heidelberg, Germany

[2] Baylor Coll Med, Dept Mol & Human Genet, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

来源：

CURRENT PSYCHIATRY REPORTS | 2013年 / 15卷 / 01期

关键词：

Autism spectrum disorders; ASDs; Autism genetics; Rare genetic variants; Copy number variants; CNVs; Single-nucleotide polymorphisms arrays; SNPs; Chromosome microarrays; Array comparative genomic hybridization; aCGH; Incomplete penetrance; Variable expressivity; Oligogenic heterozygosity; Unclassified variants; Synaptic plasticity; Genome sequencing; Common variant common disease model; CVCV; Rare variant common disease model; RVCD; Genetic disorders; Psychiatry; COPY-NUMBER VARIATION; RARE DE-NOVO; HIGH-FREQUENCY; MUTATIONS; DELETIONS; GENES; DUPLICATIONS; INDIVIDUALS; VARIANTS; MODEL;

D O I：

10.1007/s11920-012-0334-3

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

Recent advances in genetic testing technology have made chromosome microarray analysis (CMA) a first-tier clinical diagnostic test for Autism Spectrum Disorders (ASDs). Two main types of microarrays are available, single nucleotide polymorphism (SNP) arrays and array comparative genomic hybridization (aCGH), each with its own advantages and disadvantages in ASDs testing. Rare genetic variants, and copy number variants (CNVs) in particular, have been shown to play a major role in ASDs. More than 200 autism susceptibility genes have been identified to date, and complex patterns of inheritance, such as oligogenic heterozygosity, appear to contribute to the etiopathogenesis of ASDs. Incomplete penetrance and variable expressivity represent particular challenges in the interpretation of CMA testing of autistic individuals. This review aims to provide an overview of autism genetics for the practicing physician and gives hands-on advice on how to follow-up on abnormal CMA findings in individuals with neuropsychiatric disorders.

引用

页数：8

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