自闭症：众多基因，共同通路？
Autism: many genes, common pathways?
作者信息
Geschwind Daniel H
机构信息
Neurogenetics Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
出版信息
Cell. 2008 Oct 31;135(3):391-5. doi: 10.1016/j.cell.2008.10.016.
Abstract
Autism is a heterogeneous neurodevelopmental syndrome with a complex genetic etiology. It is still not clear whether autism comprises a vast collection of different disorders akin to intellectual disability or a few disorders sharing common aberrant pathways. Unifying principles among cases of autism are likely to be at the level of brain circuitry in addition to molecular pathways.
摘要
自闭症是一种具有复杂遗传病因的异质性神经发育综合征。目前尚不清楚自闭症是包含大量类似于智力障碍的不同疾病，还是少数具有共同异常通路的疾病。除了分子通路外，自闭症病例之间的统一原则可能存在于脑回路层面。
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本文引用的文献
1
Identifying autism loci and genes by tracing recent shared ancestry.通过追溯近期共同祖先来识别自闭症基因座和基因。
Science. 2008 Jul 11;321(5886):218-23. doi: 10.1126/science.1157657.
2
Advances in autism genetics: on the threshold of a new neurobiology.自闭症遗传学进展：迈向新神经生物学的门槛
Nat Rev Genet. 2008 May;9(5):341-55. doi: 10.1038/nrg2346.
3
Structural variation of chromosomes in autism spectrum disorder.自闭症谱系障碍中染色体的结构变异
Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.
4
Association between microdeletion and microduplication at 16p11.2 and autism.16号染色体短臂11.2区域的微小缺失和微小重复与自闭症之间的关联。
N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.
5
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.自闭症谱系障碍中接触蛋白相关蛋白样2的分子细胞遗传学分析与重测序
Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.
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A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.神经连接蛋白超家族成员CNTNAP2中的一种常见基因变异增加了自闭症的家族患病风险。
Am J Hum Genet. 2008 Jan;82(1):160-4. doi: 10.1016/j.ajhg.2007.09.015.
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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.连锁分析、关联分析和基因表达分析确定接触蛋白相关蛋白2（CNTNAP2）为孤独症易感基因。
Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005.
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9
Genomic rearrangements and sporadic disease.基因组重排与散发性疾病。
Nat Genet. 2007 Jul;39(7 Suppl):S43-7. doi: 10.1038/ng2084.
10
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Mol Psychiatry. 2007 May;12(5):419-21. doi: 10.1038/sj.mp.4001966.
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