Genomic copy number variation in disorders of cognitive development.
Genomic copy number variation in disorders of cognitive development.
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DOI：
10.1016/j.jaac.2010.08.009
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发表时间：
2010-11
影响因子：
13.3
通讯作者：
Morrow EM
中科院分区：
文献类型：
--
作者：
Morrow EM
以突出在包括智力残疾、自闭症和精神分裂症在内的神经精神疾病的基因组拷贝数变异领域的最新发现。强调这一领域出现的新原理，涉及疾病的遗传结构、病理生理学和诊断。发表在PubMed上的研究综述，包括对基因组疾病的经典研究，以及对正常对照、智力残疾、自闭症和精神分裂症的微阵列和拷贝数研究。新型微阵列技术的出现导致了一场革命，在影响认知发育的各种疾病中发现了经典和新颖的拷贝数变体(CNV)。在自闭症和精神分裂症中，全球CNV负担和从头开始的CNV负担与疾病相关。此外，特定的复发性CNV可能与几种DSM情况相关。每种情况也与异质性和个别罕见的CNV有关。CNV在所讨论的儿童神经精神障碍的遗传结构中起着重要作用。这一发现似乎表明，严格调控这些疾病的神经发育根中的基因剂量具有重要作用。在涉及认知发展的儿童期起病疾病的诊断和分子分型中，微阵列已经成为高收益的测试。总之，认知发育障碍的CNV研究揭示了有趣和重要的新见解，并开辟了一条研究神经精神疾病的途径。
To highlight recent discoveries in the area of genomic copy number variation in neuropsychiatric disorders including intellectual disability, autism, and schizophrenia. To emphasize new principles emerging from this area, involving the genetic architecture of disease, pathophysiology, and diagnosis. Review of studies published in PubMed including classic studies of genomic disorders and microarray and copy number studies in normal controls, intellectual disability, autism, and schizophrenia. The advent of novel microarray technology has led to a revolution in the discovery of classic and novel copy number variants (CNVs) in various disorders affecting cognitive development. Across autism and schizophrenia, global CNV burden and de novo CNV burden are associated with disease. Also, specific recurrent CNVs may be associated with several DSM conditions. Each condition is also associated with heterogeneous and individually rare CNVs. CNVs play an important role in the genetic architecture of the childhood neuropsychiatric disorders discussed. This discovery appears to suggest an important role for the strict regulation of gene dosage in the neurodevelopmental roots of these conditions. Microarrays have emerged as high-yield tests in the diagnosis and molecular subtyping of the childhood-onset disorders involving cognitive development. In summary, CNV studies in disorders of cognitive development have revealed interesting and important new insights and have opened an avenue of investigation that holds great promise for neuropsychiatric disease.
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影响因子：
64.8
作者：
Cook, Edwin H., Jr.;Scherer, Stephen W.
通讯作者：
Scherer, Stephen W.
影响因子：
3.2
作者：
Bellugi, U;Lichtenberger, L;St George, M
通讯作者：
St George, M
影响因子：
3.2
作者：
Jones, W;Bellugi, U;Adolphs, R
通讯作者：
Adolphs, R
DOI：
10.1002/ajmg.b.31063
发表时间：
2010-06-05
影响因子：
2.8
作者：
Ching, Michael S. L.;Shen, Yiping;Tan, Wen-Hann;Jeste, Shafali S.;Morrow, Eric M.;Chen, Xiaoli;Mukaddes, Nahit M.;Yoo, Seung-Yun;Hanson, Ellen;Hundley, Rachel;Austin, Christina;Becker, Ronald E.;Berry, Gerard T.;Driscoll, Katherine;Engle, Elizabeth C.;Friedman, Sandra;Gusella, James F.;Hisama, Fuki M.;Irons, Mira B.;Lafiosca, Tina;LeClair, Elaine;Miller, David T.;Neessen, Michael;Picker, Jonathan D.;Rappaport, Leonard;Rooney, Cynthia M.;Sarco, Dean P.;Stoler, Joan M.;Walsh, Christopher A.;Wolff, Robert R.;Zhang, Ting;Nasir, Ramzi H.;Wu, Bai-Lin
通讯作者：
Wu, Bai-Lin
影响因子：
9.8
作者：
Friedman, J. M.;Baross, Agnes;Marra, Marco A.
通讯作者：
Marra, Marco A.