Journal
NATURE GENETICS
Volume 42, Issue 6, Pages 489-491Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.589
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Funding
- international Autism Genome Project
- Autism Speaks
- German Mental Retardation Network (MRNET)
- Federal Ministry of Education and Research, Germany
- Deutsche Forschungsgesellschaft (DFG) [SFB488]
- Medical Faculty of Heidelberg
- CellNetworks-Cluster of Excellence [EXC81]
- Centre for Applied Genomics, Genome Canada
- Ontario Genomics Institute
- Canadian Institutes for Health Research (CIHR)
- Canadian Institute for Advanced Research (CIFAR)
- McLaughlin Centre
- Canada Foundation for Innovation
- Ontario Ministry of Research and Innovation
- Hospital for Sick Children Foundation
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Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes. Our findings further link common genes between ASD and intellectual disability.
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