Abstract:
: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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
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,doi
10.1038/ng1985subject
Has Abstractpub_date
2007-03-01 00:00:00pages
319-28issue
3eissn
1061-4036issn
1546-1718pii
ng1985journal_volume
39pub_type
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