Copy-number variations associated with neuropsychiatric conditions

被引:445
作者
Cook, Edwin H., Jr. [3 ]
Scherer, Stephen W. [1 ,2 ]
机构
[1] Hosp Sick Children, Ctr Appl Genom, Toronto Med Discovery Tower MaRS Discovery Dist, Toronto, ON M5G 1L7, Canada
[2] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada
[3] Univ Illinois, Inst Juvenile Res, Dept Psychiat, Chicago, IL 60608 USA
基金
美国国家卫生研究院;
关键词
D O I
10.1038/nature07458
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy- number variation - a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged - in the human population. Genes affected by copy- number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy- number variants and the genes that they affect needs to be considered in an integrated context.
引用
收藏
页码:919 / 923
页数:5
相关论文
共 52 条
[11]   Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification [J].
De Luca, A. ;
Bottillo, I. ;
Dasdia, M. C. ;
Morella, A. ;
Lanari, V. ;
Bernardini, L. ;
Divona, L. ;
Giustini, S. ;
Sinibaldi, L. ;
Novelli, A. ;
Torrente, I. ;
Schirinzi, A. ;
Dallapiccola, B. .
JOURNAL OF MEDICAL GENETICS, 2007, 44 (12) :800-808
[12]   Diagnostic genome profiling in mental retardation [J].
de Vries, BBA ;
Pfundt, R ;
Leisink, M ;
Koolen, DA ;
Vissers, LELM ;
Janssen, IM ;
van Reijmersdal, S ;
Nillesen, WM ;
Huys, EHLPG ;
de Leeuw, N ;
Smeets, D ;
Sistermans, EA ;
Feuth, T ;
van Ravenswaaij-Arts, CMA ;
van Kessel, AG ;
Schoenmakers, EFPM ;
Brunner, HG ;
Veltman, JA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (04) :606-616
[13]   Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders [J].
Durand, Christelle M. ;
Betancur, Catalina ;
Boeckers, Tobias M. ;
Bockmann, Juergen ;
Chaste, Pauline ;
Fauchereau, Fabien ;
Nygren, Gudrun ;
Rastam, Maria ;
Gillberg, I. Carina ;
Anckarsater, Henrik ;
Sponheim, Eili ;
Goubran-Botros, Hany ;
Delorme, Richard ;
Chabane, Nadia ;
Mouren-Simeoni, Marie-Christine ;
de Mas, Philippe ;
Bieth, Eric ;
Roge, Bernadette ;
Heron, Delphine ;
Burglen, Lydie ;
Gillberg, Christopher ;
Leboyer, Marion ;
Bourgeron, Thomas .
NATURE GENETICS, 2007, 39 (01) :25-27
[14]   Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster [J].
Emerson, J. J. ;
Cardoso-Moreira, Margarida ;
Borevitz, Justin O. ;
Long, Manyuan .
SCIENCE, 2008, 320 (5883) :1629-1631
[15]   Structural variation in the human genome [J].
Feuk, L ;
Carson, AR ;
Scherer, SW .
NATURE REVIEWS GENETICS, 2006, 7 (02) :85-97
[16]   NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? [J].
Grisart, Bernard ;
Rack, Katrina ;
Vidrequin, Sebastien ;
Hilbert, Pascale ;
Deltenre, Pierre ;
Verellen-Dumoulin, Christine ;
Destree, Anne .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (03) :305-311
[17]   Detection of large-scale variation in the human genome [J].
Iafrate, AJ ;
Feuk, L ;
Rivera, MN ;
Listewnik, ML ;
Donahoe, PK ;
Qi, Y ;
Scherer, SW ;
Lee, C .
NATURE GENETICS, 2004, 36 (09) :949-951
[18]   Causal relation between α-synuclein gene duplication and familial Parkinson's disease [J].
Ibáñez, P ;
Bonnet, AM ;
Débarges, B ;
Lohmann, E ;
Tison, F ;
Pollak, P ;
Agid, Y ;
Dürr, A ;
Brice, A .
LANCET, 2004, 364 (9440) :1169-1171
[19]   Genetics and genomics of behavioral and psychiatric disorders [J].
Inoue, K ;
Lupski, JR .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2003, 13 (03) :303-309
[20]   Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders [J].
Jacquemont, M-L ;
Sanlaville, D. ;
Redon, R. ;
Raoul, O. ;
Cormier-Daire, V. ;
Lyonnet, S. ;
Amiel, J. ;
Le Merrer, M. ;
Heron, D. ;
de Blois, M-C ;
Prieur, M. ;
Vekemans, M. ;
Carter, N. P. ;
Munnich, A. ;
Colleaux, L. ;
Philippe, A. .
JOURNAL OF MEDICAL GENETICS, 2006, 43 (11) :843-849