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Autism Genome Project Consortium Szatmari P Paterson AD Zwaigenbaum L Roberts W Brian J Liu XQ Vincent JB Skaug JL Thompson AP Senman L Feuk L Qian C Bryson SE Jones MB Marshall CR Scherer SW Vieland VJ Bartlett C Mangin LV Goedken R Segre A Pericak-Vance MA Cuccaro ML Gilbert JR Wright HH Abramson RK Betancur C Bourgeron T Gillberg C Leboyer M Buxbaum JD Davis KL Hollander E Silverman JM Hallmayer J Lotspeich L Sutcliffe JS Haines JL Folstein SE Piven J Wassink TH Sheffield V Geschwind DH 《Nature genetics》2007,39(3):319-328
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs. 相似文献
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Durand CM Betancur C Boeckers TM Bockmann J Chaste P Fauchereau F Nygren G Rastam M Gillberg IC Anckarsäter H Sponheim E Goubran-Botros H Delorme R Chabane N Mouren-Simeoni MC de Mas P Bieth E Rogé B Héron D Burglen L Gillberg C Leboyer M Bourgeron T 《Nature genetics》2007,39(1):25-27
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders. 相似文献
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Jamain S Quach H Betancur C Råstam M Colineaux C Gillberg IC Soderstrom H Giros B Leboyer M Gillberg C Bourgeron T;Paris Autism Research International Sibpair Study 《Nature genetics》2003,34(1):27-29
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism. 相似文献
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